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Femoral hypoplasia — unusual facies syndrome
Volume 86 Number 1
approved by the Food and Drug Administration for intravenous use in children. None of the reported side effects of physostigmine such as excess salivation, emesis, urination, or defecation occurred in our patient. Our experience with this patient suggests that physostigmine can rapidly reverse a comatose state induced by diazepam. Further investigation is needed however, before this mode of treatment can be recommended for routine use.
Femoral hypoplasiaunusualfacies syndrome
Brief clinical and laboratory observations
107
REFERENCES 1. Valium package insert, Roche Laboratories, Nutley, N.J. 2. Bernards W: Reversal of phenothiazine induced coma with physostigmine, Anesth Analg 52:938, 1973. 3. Goodman LS, and Gilman A: The pharmacological basis of therapeutics, New York, 1970, The Macmillan Company. 4. Rumack BH: Anticholinergic poisoning: Treatment with physostigmine, Pediatrics 52:449, I973.
vious history of congenital malformations of any type in the four families. The intelligence of each affected individual is considered to be normal.
Donna L. Daentl, M.D.,* David W. Smith, M.D., Charles I. Scott, M.D., Bryan D. Hall, M.D., and Charles A, Gooding, M.D., San Francisco, Calif., Seattle, Wash., and Baltimore, Md. T HE P U R POSE of this report is to delineate a distinctive pattern of malformation which includes femoral hypoplasia and u n u s u a l facies in four u n r e l a t e d individuals. At least two similar cases have been included in previous publications1,2 although the association of the limb anomaly with the facies was not mentioned. Table I summarizes the more consistent features of the disorder, which was shown in Figs. 1 through 5. The distinguishing facial characteristics consist of a short nose with broadened tip, elongated philtrum, thin upper lip, and micrognathia. Four to five of the six known patients have upslanting palpebral fissures, cleft palate, clubfoot, and pelvic and spinal abnormalities as well. None of the parents of the four children reported here are related. The gestational histories are devoid of e s t a b l i s h e d teratogenic factors. In three of the four cases there is a negative family history of diabetes mellitus: a maternal great grandmother of Patient 4 is the sole relative with this diagnosis. There is no pre-
From the Departments of Pediatrics, University of California--San Francisco, University of Washington, and the Johns Hopkins School of Medicine, and the Department of Radiology, University of California--San Francisco. Supported in part by grants from The National Foundation-March of Dimes. *Reprintaddress: Universityof California-SanFrancisco,Room 630S, San Francisco,Calif. 94143.
CASE REPORTS Patient 1 (Fig. 1) is an only child of parents who were 25 years old at the time of his birth. His mother had normal fasting blood glucose values on three separate occasions over the past 7 years and her oral glucose tolerance curve is flat, even after cortisone stimulation. The uncomplicated gestation was 37 weeks long. A breech delivery was accomplished without difficulty. The birth weight was 2.16 kg and the birth length was only 36 cm, at least par-
Fig. 1. Patient 1.
108
Brief clinical and laboratory observations
The Journal of Pediatrics January 1975
Fig. 2B. Roentgenogram of Patient 2.
Fig. 2A. Patient 2. tially due to the extreme shortening of the lower extremities caused by apparent absence of both femurs and articulation of the proximal tibiae With the acetabula. Talipes equinovarus was present and correction of the deformity by casting at ages 2 months and 289 years has not been successfully maintained. Both testicles were undescended at birth. At the age of 6 weeks there was a surgical repair of a left direct inguinal hernia and at this time the left testicle was moved into the scrotum. The right testicle has remained undescended. Additional anomalies include: right esotropia with astigmatism, fused left mandibular canine and lateral incisor teeth, inferiorly located left kidney, and bilobed bladder. Motor development was retarded due to the malformations. Standing was not accomplished until age 18 months. Ambulation was initiated at age 14 months with the use of all four extremities. By age 23 months an upright posture was assumed and walking was accomplished without difficulty. However, to obtain a more normal body stature and proportion, artificial limbs of various types have been intermittently worn strapped to the feet beneath wide trousers. Discomfort due to fitting problems has limited the usefulness of this approach.
Fig. 3A. Patient 3. Patient 2, an adult woman, the second of four children, was born when her mother was 26 and her father was 36 years of age. There were no complications during the 40 week gestation, the labor, or the vertex delivery. The birth weight was 2.13 kg. A cleft palate, micrognathia, and markedly shortened legs were noted at birth. The knees appeared to be located in t h e area of the hip joints. Developmental milestones were normal except that walking did not begin until 22 months of age. Repair of the Cleft palate was performed at age 18 months and for several years the patient received speech therapy. A mild hearing loss was detected following a severe bout of otitis media at 10 years of age. Because of difficulty in sitting due to posterior protrusion of the malformed proximal femurs, femoral ostectomies were per-
Volume 86 Number 1
Brief c/inica/ and laboratory observations
Fig. 3B. Roentgenogram of Patient 3. formed at the ages of 12 and 21 years. There is mild astigmatism. The third, fourth, and fifth metatarsals are relatively short (Figs. 2A and 2B). Menarche occurred at 13 years and menses were regular for the first 2 years. Because of a 2 month period of menorrhagia when she was 16 years of age, a laparotomy was performed. Multiple myomas of a retroflexed uterus were found and several of these were removed. A gynecologic examination at age 23 years revealed the presence of clitoral enlargement, amenorrhea, and hirsuitism, suggesting a diagnosis of SteinLeventhal syndrome. The patient completed high school as an above-average student and has worked successfully as a secretary-typist. The final height attainment is 110 cm and the upper/lower segment ratio is 1.85. She walks well and drives an automobile by using hand controls. Patient 3 was born to a 25-year-old mother and 27-year-old father after a 36 week gestation during which there was limited vigor of fetal movements. A breech delivery was performed without complications. The birth weight was 1.86 kg. There was a partial cleft palate and severe shortening of the lower ext r e m i t i e s with a p p a r e n t left-sided bowing, left talipes equinovarus, and eversion of the right foot. Due to the malformations of the lower extremities, she is not able to walk at the age of 2 years. She also has left esotropia, cutaneous dimples at the medial base of the elbows, and relatively short fingernails (Figs. 3A and 3B). An older male sibling is normal.
Fig. 4A. Patient 4.
Fig. 4B. Roentgenogram of Patient 4.
109
110
B r i e f clinical and laboratory observations
The Journal o f Pediatrics January 1975
Table I. F e a t u r e s w h i c h are p r e s e n t in t h r e e or m o r e o f six p a t i e n t s
I
Patient of Franz and 0 "RahillyI
Patient o f Kucera and associates2
Total
• + + + + +
? ? 9 + ? ?
-I+ + + + +
4/5 5/5 5/5 5/6 5/5 4/5
+ +
+ +
+ +
? +
5/5 5/6
+ --
+ +
+ +
+ +
+ +
6/6 5/6
+
+
+
+
+
?
5/5
Arms." Mild shortening of humerus Restricted motion of elbows
+ +
+ ?
+ +
+ +
? +
? +
4/4 5/5
Pelvis: Constricted ilial base Vertical ischial axis Acetabulae hypoplastic or undeveloped Large obturator foramina
+ + + +
+ + + +
+ + + --
+ + + +
? ? + ?
+ + + +
5/5 5/5 6/6 4/5
Spine: Lower spine abnormalities
+'t"
+*
+w
-
?
?
3/4
R ibs: Posterior tapering
•
+
?
+
?
--
3/4
Patient 1
Patient 2
Patient 3
Facies: Upslanting palpebral fissures Short nose Broad nasal tip Narrow nasal alar dimension (nose) Long philtrum Thin upper lip
+* + + + + +
-+ • + --
+ + + -+ + +
Oral: Small mandible Cleft palate
+ -
+ +
Legs: Short or absent femurs Short or absent fibulas
+ +
Feet: Clubfoot
Features
Patient[
4 J
*+, present; - , absent; _+, present to a slight degree; ?, no available information. tCommon transverse processes and bony bridging L2-L3, L3-L4. Partial sacralization of lower lumbar vertebrae. *Seven cervical, 11 thoracic, 3 lumbar, and 6 sacral vertebrae. w L1 (left side), S1 (right side), $2, $3; scoliosis with convexity to right and apex at L5 measuring 15~
Patient 4, a girl, is the most mildly affected. She is the second child of 22-year-old parents. Fetal activity was less than that of the normal sibling and the gestational period was 36 weeks. The birth weight was 2.6 kg. There was a cleft soft and posterior hard palate. Limitation in abduction of the hips led to the discovery by radiograph of bilateral acetabular dysplasia and dislocation of the femoral heads, which was successfully treated by casting for the first 9 months. There was shortening and bowing of the femurs with cutaneous dimples in the lateral thighs at the point of maximal bowing. There also was radiohumeral synostosis resulting in fixation of the elbow in 90 degrees of flexion (Figs. 4A and 4B). Linear growth has been slow but the head circumference is normal. Walking with Support began at the age of 13 months.
p e a r a n c e and t h e c o m b i n a t i o n o f m a l f o r m a t i o n s appears to be a distinct clinical s y n d r o m e . T h e malprop o r t i o n a t e hypoplasia o f b o n e is m o s t striking in the f e m u r s a n d to a lesser e x t e n t in t h e h u m e r i . T h e d e f e c t p r e s u m a b l y o c c u r r e d in t h e e a r l y s t a g e s o f s k e l e t a l m o r p h o g e n e s i s , t h e r e b e i n g a l m o s t a t o t a l lack o f f e m o r a l d e v e l o p m e n t in two p a t i e n t s a n d a failure of j o i n t d e v e l o p m e n t at t h e e l b o w in two patients. Less serious but widespread anomalies of skeletal morp h o g e n e s i s are p r e s e n t to, a variable d e g r e e a l o n g with u n u s u a l facies in w h i c h a s h o r t n o s e w i t h small alae nasae and a small m a n d i b l e are the p r e d o m i n a n t f e a t u r e s . Early fetal m i c r o g n a t h i a with g l o s s o p t o s i s could c o n c e i v a b l y h a v e b e e n r e s p o n s i b l e for t h e failure
DISCUSSION
o f closure o f t h e palatal s h e l v e s in five o f t h e six pa-
T h e s e u n r e l a t e d p a t i e n t s a n d the two cases i n d e p e n d -
t i e n t s , t h o u g h n o n e w e r e k n o w n to h a v e h a d glos-
e n t l y r e p o r t e d b y F r a n z a n d O'Rahilly 1 in 1961 a n d
soptosis to the d e g r e e o f causing r e s p i r a t o r y o b s t r u c t i o n
K u c e r a , Lenz, a n d M a i e r 2 in 1965 h a v e a similar ap-
d u r i n g early infancy. T h e m a j o r p r o b l e m s in life h a v e
Volume 86 Number 1
Brief clinical and laboratory observations
111
tal age at birth of the patients was not advanced, no chromosomal abnormalities have been detected, and no potential environmental teratogen has been identified. Maternal diabetes mellitus was present only in the patient (Fig. 5) r e p o r t e d by K u c e r a and associates. 2 Although the occurrence of caudal and lower limb abnormalities among children of diabetic and even prediabetic mothers 3 has been previously reported in at least 43 cases, 4 none o f the descriptions included the total pattern of anomalies set forth in this report. The authors thank Dr. William H. Driscbler, Milwaukee, Wis., for the referral of Patient 1; Shriner's Hospital, Chicago, II1., for the x-rays of Patient 1; Dr. John Vaughan for the referral of Patient 3; Dr. Widikind Lenz, Muenster, West Germany, and Deutsche Mediziniche Wochenschrift, Georg Thieme Verlag, for permission to publish the photograph of a previously reported patient. REFERENCES
Fig. 5. Patient of Kucera et al. (Deutsch Med Wochenschr 90:901, 1965.)
1. Franz CH, and O'Rahilly R: Congenital skeletal limb deficiencies, J Bone Joint Surg 43:1218, 1961. 2. Kucera VonJ, Lenz W, and Maier W: Missbildungen der Beine und der Kaudalen Wirbelg~ule bei Kindern diabetischer MUtter, Deutsch Med Wochenschr 90:901, 1965. 3. McCracken J: Absence of foetal femur and maternal prediabetes, Lancet 1:1274 1965. 4. Williamson D: A syndrome of congenital malformations possibly due to maternal diabetes, Dev Med Child Neurol. 12:145, 1970.
been small stature and variable orthopedic difficulty with the function of the lower limbs. The etiology is unknown. The siblings are normal, the parents are not consanguineous, the average paren-
The "pop-top" tab A cause o f esophageal stenosis James P. Keating, M.D.,* Clarence S. Weldon, M.D., John P. Connors, M,D., and William H. McAlister, M.D., St. Louis, Mo.
A N INFANT i n g e s t e d a " p o p - t o p " which had b e e n pushed into a beverage can. The foreign body was not From The Edward Mallinckrodt Department of Pediatrics of Washington University School of Medicine and theDivisions of Gastroenterology, Cardiothoracic Surgery and Radiology, St. Louis Children's Hospital. *Reprint address: Department of Pediatrics, 500South Kingshighway, St. Louis, Mo. 63110.
appreciated on radiographic studies or endoscopy and was r e t a i n e d for 12 m o n t h s , r e s u l t i n g in s e v e r e esophageal stenosis. D i v i s i o n o f an a b e r r a n t right subclavian artery prior to the establishment of the corr.ect diagnosis failed to alleviate symptoms. CASE R E P O R T J. F,, 26 months old, was referred to St. Louis Children's Hospital because of esophageal stenosis. She had been in good health until 7 months of age when she suddenly began coughing, gagging, and developed stridor. Small amounts of blood were mixed with vomitus. Chest radiographs at that time were interpreted as demonstrating only air trapping. An irregular narrowing at the thoracic inlet was observed after barium swallow (Fig. 1). Aortography was performed at 9 months of age to exclude a vascular ring because of persistence of the symptoms and several episodes of pneumonia. An aberrant right subclavian artery was demonstrated; a left thoracotomy
approved by the Food and Drug Administration for intravenous use in children. None of the reported side effects of physostigmine such as excess salivation, emesis, urination, or defecation occurred in our patient. Our experience with this patient suggests that physostigmine can rapidly reverse a comatose state induced by diazepam. Further investigation is needed however, before this mode of treatment can be recommended for routine use.
Femoral hypoplasiaunusualfacies syndrome
Brief clinical and laboratory observations
107
REFERENCES 1. Valium package insert, Roche Laboratories, Nutley, N.J. 2. Bernards W: Reversal of phenothiazine induced coma with physostigmine, Anesth Analg 52:938, 1973. 3. Goodman LS, and Gilman A: The pharmacological basis of therapeutics, New York, 1970, The Macmillan Company. 4. Rumack BH: Anticholinergic poisoning: Treatment with physostigmine, Pediatrics 52:449, I973.
vious history of congenital malformations of any type in the four families. The intelligence of each affected individual is considered to be normal.
Donna L. Daentl, M.D.,* David W. Smith, M.D., Charles I. Scott, M.D., Bryan D. Hall, M.D., and Charles A, Gooding, M.D., San Francisco, Calif., Seattle, Wash., and Baltimore, Md. T HE P U R POSE of this report is to delineate a distinctive pattern of malformation which includes femoral hypoplasia and u n u s u a l facies in four u n r e l a t e d individuals. At least two similar cases have been included in previous publications1,2 although the association of the limb anomaly with the facies was not mentioned. Table I summarizes the more consistent features of the disorder, which was shown in Figs. 1 through 5. The distinguishing facial characteristics consist of a short nose with broadened tip, elongated philtrum, thin upper lip, and micrognathia. Four to five of the six known patients have upslanting palpebral fissures, cleft palate, clubfoot, and pelvic and spinal abnormalities as well. None of the parents of the four children reported here are related. The gestational histories are devoid of e s t a b l i s h e d teratogenic factors. In three of the four cases there is a negative family history of diabetes mellitus: a maternal great grandmother of Patient 4 is the sole relative with this diagnosis. There is no pre-
From the Departments of Pediatrics, University of California--San Francisco, University of Washington, and the Johns Hopkins School of Medicine, and the Department of Radiology, University of California--San Francisco. Supported in part by grants from The National Foundation-March of Dimes. *Reprintaddress: Universityof California-SanFrancisco,Room 630S, San Francisco,Calif. 94143.
CASE REPORTS Patient 1 (Fig. 1) is an only child of parents who were 25 years old at the time of his birth. His mother had normal fasting blood glucose values on three separate occasions over the past 7 years and her oral glucose tolerance curve is flat, even after cortisone stimulation. The uncomplicated gestation was 37 weeks long. A breech delivery was accomplished without difficulty. The birth weight was 2.16 kg and the birth length was only 36 cm, at least par-
Fig. 1. Patient 1.
108
Brief clinical and laboratory observations
The Journal of Pediatrics January 1975
Fig. 2B. Roentgenogram of Patient 2.
Fig. 2A. Patient 2. tially due to the extreme shortening of the lower extremities caused by apparent absence of both femurs and articulation of the proximal tibiae With the acetabula. Talipes equinovarus was present and correction of the deformity by casting at ages 2 months and 289 years has not been successfully maintained. Both testicles were undescended at birth. At the age of 6 weeks there was a surgical repair of a left direct inguinal hernia and at this time the left testicle was moved into the scrotum. The right testicle has remained undescended. Additional anomalies include: right esotropia with astigmatism, fused left mandibular canine and lateral incisor teeth, inferiorly located left kidney, and bilobed bladder. Motor development was retarded due to the malformations. Standing was not accomplished until age 18 months. Ambulation was initiated at age 14 months with the use of all four extremities. By age 23 months an upright posture was assumed and walking was accomplished without difficulty. However, to obtain a more normal body stature and proportion, artificial limbs of various types have been intermittently worn strapped to the feet beneath wide trousers. Discomfort due to fitting problems has limited the usefulness of this approach.
Fig. 3A. Patient 3. Patient 2, an adult woman, the second of four children, was born when her mother was 26 and her father was 36 years of age. There were no complications during the 40 week gestation, the labor, or the vertex delivery. The birth weight was 2.13 kg. A cleft palate, micrognathia, and markedly shortened legs were noted at birth. The knees appeared to be located in t h e area of the hip joints. Developmental milestones were normal except that walking did not begin until 22 months of age. Repair of the Cleft palate was performed at age 18 months and for several years the patient received speech therapy. A mild hearing loss was detected following a severe bout of otitis media at 10 years of age. Because of difficulty in sitting due to posterior protrusion of the malformed proximal femurs, femoral ostectomies were per-
Volume 86 Number 1
Brief c/inica/ and laboratory observations
Fig. 3B. Roentgenogram of Patient 3. formed at the ages of 12 and 21 years. There is mild astigmatism. The third, fourth, and fifth metatarsals are relatively short (Figs. 2A and 2B). Menarche occurred at 13 years and menses were regular for the first 2 years. Because of a 2 month period of menorrhagia when she was 16 years of age, a laparotomy was performed. Multiple myomas of a retroflexed uterus were found and several of these were removed. A gynecologic examination at age 23 years revealed the presence of clitoral enlargement, amenorrhea, and hirsuitism, suggesting a diagnosis of SteinLeventhal syndrome. The patient completed high school as an above-average student and has worked successfully as a secretary-typist. The final height attainment is 110 cm and the upper/lower segment ratio is 1.85. She walks well and drives an automobile by using hand controls. Patient 3 was born to a 25-year-old mother and 27-year-old father after a 36 week gestation during which there was limited vigor of fetal movements. A breech delivery was performed without complications. The birth weight was 1.86 kg. There was a partial cleft palate and severe shortening of the lower ext r e m i t i e s with a p p a r e n t left-sided bowing, left talipes equinovarus, and eversion of the right foot. Due to the malformations of the lower extremities, she is not able to walk at the age of 2 years. She also has left esotropia, cutaneous dimples at the medial base of the elbows, and relatively short fingernails (Figs. 3A and 3B). An older male sibling is normal.
Fig. 4A. Patient 4.
Fig. 4B. Roentgenogram of Patient 4.
109
110
B r i e f clinical and laboratory observations
The Journal o f Pediatrics January 1975
Table I. F e a t u r e s w h i c h are p r e s e n t in t h r e e or m o r e o f six p a t i e n t s
I
Patient of Franz and 0 "RahillyI
Patient o f Kucera and associates2
Total
• + + + + +
? ? 9 + ? ?
-I+ + + + +
4/5 5/5 5/5 5/6 5/5 4/5
+ +
+ +
+ +
? +
5/5 5/6
+ --
+ +
+ +
+ +
+ +
6/6 5/6
+
+
+
+
+
?
5/5
Arms." Mild shortening of humerus Restricted motion of elbows
+ +
+ ?
+ +
+ +
? +
? +
4/4 5/5
Pelvis: Constricted ilial base Vertical ischial axis Acetabulae hypoplastic or undeveloped Large obturator foramina
+ + + +
+ + + +
+ + + --
+ + + +
? ? + ?
+ + + +
5/5 5/5 6/6 4/5
Spine: Lower spine abnormalities
+'t"
+*
+w
-
?
?
3/4
R ibs: Posterior tapering
•
+
?
+
?
--
3/4
Patient 1
Patient 2
Patient 3
Facies: Upslanting palpebral fissures Short nose Broad nasal tip Narrow nasal alar dimension (nose) Long philtrum Thin upper lip
+* + + + + +
-+ • + --
+ + + -+ + +
Oral: Small mandible Cleft palate
+ -
+ +
Legs: Short or absent femurs Short or absent fibulas
+ +
Feet: Clubfoot
Features
Patient[
4 J
*+, present; - , absent; _+, present to a slight degree; ?, no available information. tCommon transverse processes and bony bridging L2-L3, L3-L4. Partial sacralization of lower lumbar vertebrae. *Seven cervical, 11 thoracic, 3 lumbar, and 6 sacral vertebrae. w L1 (left side), S1 (right side), $2, $3; scoliosis with convexity to right and apex at L5 measuring 15~
Patient 4, a girl, is the most mildly affected. She is the second child of 22-year-old parents. Fetal activity was less than that of the normal sibling and the gestational period was 36 weeks. The birth weight was 2.6 kg. There was a cleft soft and posterior hard palate. Limitation in abduction of the hips led to the discovery by radiograph of bilateral acetabular dysplasia and dislocation of the femoral heads, which was successfully treated by casting for the first 9 months. There was shortening and bowing of the femurs with cutaneous dimples in the lateral thighs at the point of maximal bowing. There also was radiohumeral synostosis resulting in fixation of the elbow in 90 degrees of flexion (Figs. 4A and 4B). Linear growth has been slow but the head circumference is normal. Walking with Support began at the age of 13 months.
p e a r a n c e and t h e c o m b i n a t i o n o f m a l f o r m a t i o n s appears to be a distinct clinical s y n d r o m e . T h e malprop o r t i o n a t e hypoplasia o f b o n e is m o s t striking in the f e m u r s a n d to a lesser e x t e n t in t h e h u m e r i . T h e d e f e c t p r e s u m a b l y o c c u r r e d in t h e e a r l y s t a g e s o f s k e l e t a l m o r p h o g e n e s i s , t h e r e b e i n g a l m o s t a t o t a l lack o f f e m o r a l d e v e l o p m e n t in two p a t i e n t s a n d a failure of j o i n t d e v e l o p m e n t at t h e e l b o w in two patients. Less serious but widespread anomalies of skeletal morp h o g e n e s i s are p r e s e n t to, a variable d e g r e e a l o n g with u n u s u a l facies in w h i c h a s h o r t n o s e w i t h small alae nasae and a small m a n d i b l e are the p r e d o m i n a n t f e a t u r e s . Early fetal m i c r o g n a t h i a with g l o s s o p t o s i s could c o n c e i v a b l y h a v e b e e n r e s p o n s i b l e for t h e failure
DISCUSSION
o f closure o f t h e palatal s h e l v e s in five o f t h e six pa-
T h e s e u n r e l a t e d p a t i e n t s a n d the two cases i n d e p e n d -
t i e n t s , t h o u g h n o n e w e r e k n o w n to h a v e h a d glos-
e n t l y r e p o r t e d b y F r a n z a n d O'Rahilly 1 in 1961 a n d
soptosis to the d e g r e e o f causing r e s p i r a t o r y o b s t r u c t i o n
K u c e r a , Lenz, a n d M a i e r 2 in 1965 h a v e a similar ap-
d u r i n g early infancy. T h e m a j o r p r o b l e m s in life h a v e
Volume 86 Number 1
Brief clinical and laboratory observations
111
tal age at birth of the patients was not advanced, no chromosomal abnormalities have been detected, and no potential environmental teratogen has been identified. Maternal diabetes mellitus was present only in the patient (Fig. 5) r e p o r t e d by K u c e r a and associates. 2 Although the occurrence of caudal and lower limb abnormalities among children of diabetic and even prediabetic mothers 3 has been previously reported in at least 43 cases, 4 none o f the descriptions included the total pattern of anomalies set forth in this report. The authors thank Dr. William H. Driscbler, Milwaukee, Wis., for the referral of Patient 1; Shriner's Hospital, Chicago, II1., for the x-rays of Patient 1; Dr. John Vaughan for the referral of Patient 3; Dr. Widikind Lenz, Muenster, West Germany, and Deutsche Mediziniche Wochenschrift, Georg Thieme Verlag, for permission to publish the photograph of a previously reported patient. REFERENCES
Fig. 5. Patient of Kucera et al. (Deutsch Med Wochenschr 90:901, 1965.)
1. Franz CH, and O'Rahilly R: Congenital skeletal limb deficiencies, J Bone Joint Surg 43:1218, 1961. 2. Kucera VonJ, Lenz W, and Maier W: Missbildungen der Beine und der Kaudalen Wirbelg~ule bei Kindern diabetischer MUtter, Deutsch Med Wochenschr 90:901, 1965. 3. McCracken J: Absence of foetal femur and maternal prediabetes, Lancet 1:1274 1965. 4. Williamson D: A syndrome of congenital malformations possibly due to maternal diabetes, Dev Med Child Neurol. 12:145, 1970.
been small stature and variable orthopedic difficulty with the function of the lower limbs. The etiology is unknown. The siblings are normal, the parents are not consanguineous, the average paren-
The "pop-top" tab A cause o f esophageal stenosis James P. Keating, M.D.,* Clarence S. Weldon, M.D., John P. Connors, M,D., and William H. McAlister, M.D., St. Louis, Mo.
A N INFANT i n g e s t e d a " p o p - t o p " which had b e e n pushed into a beverage can. The foreign body was not From The Edward Mallinckrodt Department of Pediatrics of Washington University School of Medicine and theDivisions of Gastroenterology, Cardiothoracic Surgery and Radiology, St. Louis Children's Hospital. *Reprint address: Department of Pediatrics, 500South Kingshighway, St. Louis, Mo. 63110.
appreciated on radiographic studies or endoscopy and was r e t a i n e d for 12 m o n t h s , r e s u l t i n g in s e v e r e esophageal stenosis. D i v i s i o n o f an a b e r r a n t right subclavian artery prior to the establishment of the corr.ect diagnosis failed to alleviate symptoms. CASE R E P O R T J. F,, 26 months old, was referred to St. Louis Children's Hospital because of esophageal stenosis. She had been in good health until 7 months of age when she suddenly began coughing, gagging, and developed stridor. Small amounts of blood were mixed with vomitus. Chest radiographs at that time were interpreted as demonstrating only air trapping. An irregular narrowing at the thoracic inlet was observed after barium swallow (Fig. 1). Aortography was performed at 9 months of age to exclude a vascular ring because of persistence of the symptoms and several episodes of pneumonia. An aberrant right subclavian artery was demonstrated; a left thoracotomy