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Cleft palate associated with Klippel-Feil syndrome
Cleft palate associated with Klippel-Feil syndrome Report
of a case
Robert M. Sommerfeld, D.D.S., M.X.,” and James W. Schweiger, D.D.S., M.S.,*+ Iowa City, Iowa
K
lippel-Feil syndrome is a clinical condition characterized by the congenital fusion of two or more cervical vertebrae. This syndrome, as originally described by Klippel and Feil in 1912, consists of a triad of easily recognizable signs: The patient has a short neck, his posterior hairline is lower than normal, and there is a definite limitation of head and neck m0vements.l CASE
REPORT
On March 22, 1946, the patient shown in Fig. 1 was seen as a 20-month-old girl in the Department of Otolaryngology at the University Hospital in Iowa City, Iowa. The parents noted a “hole” in the roof of her mouth and claimed that she had difficulty in swallowing. She had had a persistent cough since birth. Food often came out through her nose, and the parents had also noticed a deformity of the child’s shoulders. The mother claimed that the patient was born after a normal pregnancy of 9 months duration. Labor and delivery were normal. The patient was the sixth child and weighed 5 pounds at birth. There were no known congenital deformities in relatives on either the mother’s or the father’s side. The Department of Otolaryngology recommended medical treatment for rhinitis and The patient was then sent to the surgical treatment of the cleft palate and adenoids. Orthopedic Department for consultation. The Orthopedic Department noted that the neck had been deformed since birth, but the deformity had not materially bothered the child. The neck was very short and broad, and the scapulas were described as being “bilaterally high.” The child also presented an apparent spina bifida. The Orthopedic Department diagnosed the ease as one of Klippel-Feil syndrome with Sprengel’s deformity.
This
study was supported in part by National Institutes of Health DE-00853. *Postdoctoral Fellow, Department of Otolaryngology and Maxillofacial facial Prosthodontics). Universitv HosDitals. Iowa City, Iowa.. **Associate Prof&or,.Department of dtolaryngo%gy and Maxillofacial facial Prosthodontics), Umversity Hospitals, Iowa City, Iowa.
General
Research
Grant
Surgery
(Maxillo-
Surgery
(Maxillo-
737
The operation for the repair of the clef1 !c101< place on Nag 27, l!H(i. iI> the lkp:~~~tme~~l of Otol:nyngoIogy. The cleft, which n-as rlescribc~d as being Cinite wide and extending ahonf 15 mm. anteriorly, was closet1 and the postoperative recovery was uneventful. On April Ci, 1946, the sutures were removed, and the repair held except for a length of about 1 cm. at the junction of t,he hard and soft palate. The patient was dismissed from the hospital and was to return 6 months later. She did not return until .June 14, 1963, when she was 19 years of age. At this time phe was seen because of recnrrent. right lower qnadrant pain. No cause could be fonnd for this pain, but it, was fount1 that, internal genitals were completely absent, and that there were numerous bony abnormalities. On x-ray examination, the patient was also found to have occult spina hifida and a bilateral fusetl pelric kidney. It was thought that there were no serious organic problems which ronld account for the pain. The patient returned to the hospital again on May 20, 1968, complaining of abdominal pain. Thorough examination apain revealed nothing which could account for the pain. At this time she was referret to the Drpartmcnt of Otolargngologty to have the repair of t,he cleft checked. It was noted that there was a ci to 7 mm. fistula at the ,juncion of the hard am1 soft palates. The patient IWS thtn rcfcrrcvl to the Dcpartmcnt of Speech and Hearing, where her speech was defined as intelligil)le. Oral monometric pressures indicated that she ~vas unaljle to Sustain sutficient air in tho oral cavity without, its escaping through the nasopharyns. The patient is currently nndergoing oyal surgiral prorednrrs for the removal of rarious and abscessed teeth. This treatnlcnt is to lie followed hy the cokIuct,ion of a dental prosthesis and ol,turntor for 111~ improvement of her speech.
DISCUSSION
A review by Grq- and aswciatesl in 1964 indicated a great difference in the estimates of the incidcncc of this syndrome. It has been determined, l~owcver, afflicted. The cervical vertebral fusion may begin at that, the sews are equa?l~ any intervertebral lewl and extend downmartl for a rnriable distance. A number of nrurologic symptoms r&ted to the head, neck, and upper and lower extremities a.re frequently seen. To some extent, the age at which the neurologic symptoms appear depends upon the level of fusion. Most of these
symptoms appear prior to the age of 30. Although there are no accurate figures concerning life expectancy for patients with cervical fusion, these patients face increased risks from trauma because there are fewer joints than in the normal neck. Other congenital anomalies which have been found associated with KlippelFeil syndrome are Sprengel’s deformity (a raised scapula), spina bifida, facial asymmetry, torticollis, occipitalization of the atlas, cervical ribs, deaf mutism, meningocele, webbed neck, gonadal aplasia, and cleft. palate.2 In studies by Fraser and Calnaq3 Martin and Trabue,4 Cohney,5 and ROSS,~there were reports of high incidences of cleft palate associated with severe vertebral anomalies, but there were almost never reports of these vertebral anomalies being associated with clefts of the lip. These findings led Ross and Lindsay7 to hypothesize that there may be a functional developmental relationship between the cervical vertebrae and facial structures. They noted that in the eighth or ninth week of embryonic life the tongue lies between the vertically oriented palatal shelves. Before the formation of the soft palate at about the ninth or tenth week, the head must be lifted from the pericardial region and the mandible and tongue drop to permit the palatal shelves to meet and fuse in the midline. When there is a fusion of the cervical vertebrae, as in the Klippel-Feil syndrome, the mandible may remain compressed against the chest, forcing the tongue to continue to lie between the palatal shelves at a time when palatal closure would norma.lly occur. The result would be a cleft of the palate with no interference in the normal development of the lip and alveolus, R.oss and Lindsay have noted, in support of their hypothesis, that even though persons wit,h Klippel-Feil syndrome may have no cleft palate they still tend to have high palatal vaults. REFERENCES
Fusion of the Cervical 1. Gray, S. W., Romaine, C. B., and Skandalakis, J. E.: Congenital Vertebrate, Surg. Gynec. & Obst. 118: 373, 1964. 2. Kacker, S. K., and Agarwal, K. K.: A Case of Klippel-Feil Syndrome With Congenital Soft Palate, J. Laryng. 79: 556, 1965. 3. Fraser, G. R., and Calnan, J. S.: Cleft Lip and Palate, Seasonal Incidence, Birth Weight, Birth Rank, Sex, Site, Associated Malformations and Parental Age, Arch. Dis. Child. 36: 420, 1961. 4. Martin, B. C., and Trabue, J. C.: Klippel-Feil Syndrome With Associated Deformities: A Report of Three Cases, Plast. & Reconstruct. Surg. 9: 59, 1952. 5. Cohney, B. C.: The Association of Cleft Palate With the Klippel-Feil Syndrome, Plast. & Reconstruct. Surg. 31: 179, 1963. 6. Ross, R. B.: Cranial Base and Cervical Vertebrate in Palate and Prepalate Clefts, Cleft Palate Bull. 10: 60,. 1960. 7. Ross, R. B., and Lindsay, W. K.: The Cervical Vertebrae as a Factor in the Etiology of Cleft Palate, Cleft Palate J. 2: 273, 1965.
of a case
Robert M. Sommerfeld, D.D.S., M.X.,” and James W. Schweiger, D.D.S., M.S.,*+ Iowa City, Iowa
K
lippel-Feil syndrome is a clinical condition characterized by the congenital fusion of two or more cervical vertebrae. This syndrome, as originally described by Klippel and Feil in 1912, consists of a triad of easily recognizable signs: The patient has a short neck, his posterior hairline is lower than normal, and there is a definite limitation of head and neck m0vements.l CASE
REPORT
On March 22, 1946, the patient shown in Fig. 1 was seen as a 20-month-old girl in the Department of Otolaryngology at the University Hospital in Iowa City, Iowa. The parents noted a “hole” in the roof of her mouth and claimed that she had difficulty in swallowing. She had had a persistent cough since birth. Food often came out through her nose, and the parents had also noticed a deformity of the child’s shoulders. The mother claimed that the patient was born after a normal pregnancy of 9 months duration. Labor and delivery were normal. The patient was the sixth child and weighed 5 pounds at birth. There were no known congenital deformities in relatives on either the mother’s or the father’s side. The Department of Otolaryngology recommended medical treatment for rhinitis and The patient was then sent to the surgical treatment of the cleft palate and adenoids. Orthopedic Department for consultation. The Orthopedic Department noted that the neck had been deformed since birth, but the deformity had not materially bothered the child. The neck was very short and broad, and the scapulas were described as being “bilaterally high.” The child also presented an apparent spina bifida. The Orthopedic Department diagnosed the ease as one of Klippel-Feil syndrome with Sprengel’s deformity.
This
study was supported in part by National Institutes of Health DE-00853. *Postdoctoral Fellow, Department of Otolaryngology and Maxillofacial facial Prosthodontics). Universitv HosDitals. Iowa City, Iowa.. **Associate Prof&or,.Department of dtolaryngo%gy and Maxillofacial facial Prosthodontics), Umversity Hospitals, Iowa City, Iowa.
General
Research
Grant
Surgery
(Maxillo-
Surgery
(Maxillo-
737
The operation for the repair of the clef1 !c101< place on Nag 27, l!H(i. iI> the lkp:~~~tme~~l of Otol:nyngoIogy. The cleft, which n-as rlescribc~d as being Cinite wide and extending ahonf 15 mm. anteriorly, was closet1 and the postoperative recovery was uneventful. On April Ci, 1946, the sutures were removed, and the repair held except for a length of about 1 cm. at the junction of t,he hard and soft palate. The patient was dismissed from the hospital and was to return 6 months later. She did not return until .June 14, 1963, when she was 19 years of age. At this time phe was seen because of recnrrent. right lower qnadrant pain. No cause could be fonnd for this pain, but it, was fount1 that, internal genitals were completely absent, and that there were numerous bony abnormalities. On x-ray examination, the patient was also found to have occult spina hifida and a bilateral fusetl pelric kidney. It was thought that there were no serious organic problems which ronld account for the pain. The patient returned to the hospital again on May 20, 1968, complaining of abdominal pain. Thorough examination apain revealed nothing which could account for the pain. At this time she was referret to the Drpartmcnt of Otolargngologty to have the repair of t,he cleft checked. It was noted that there was a ci to 7 mm. fistula at the ,juncion of the hard am1 soft palates. The patient IWS thtn rcfcrrcvl to the Dcpartmcnt of Speech and Hearing, where her speech was defined as intelligil)le. Oral monometric pressures indicated that she ~vas unaljle to Sustain sutficient air in tho oral cavity without, its escaping through the nasopharyns. The patient is currently nndergoing oyal surgiral prorednrrs for the removal of rarious and abscessed teeth. This treatnlcnt is to lie followed hy the cokIuct,ion of a dental prosthesis and ol,turntor for 111~ improvement of her speech.
DISCUSSION
A review by Grq- and aswciatesl in 1964 indicated a great difference in the estimates of the incidcncc of this syndrome. It has been determined, l~owcver, afflicted. The cervical vertebral fusion may begin at that, the sews are equa?l~ any intervertebral lewl and extend downmartl for a rnriable distance. A number of nrurologic symptoms r&ted to the head, neck, and upper and lower extremities a.re frequently seen. To some extent, the age at which the neurologic symptoms appear depends upon the level of fusion. Most of these
symptoms appear prior to the age of 30. Although there are no accurate figures concerning life expectancy for patients with cervical fusion, these patients face increased risks from trauma because there are fewer joints than in the normal neck. Other congenital anomalies which have been found associated with KlippelFeil syndrome are Sprengel’s deformity (a raised scapula), spina bifida, facial asymmetry, torticollis, occipitalization of the atlas, cervical ribs, deaf mutism, meningocele, webbed neck, gonadal aplasia, and cleft. palate.2 In studies by Fraser and Calnaq3 Martin and Trabue,4 Cohney,5 and ROSS,~there were reports of high incidences of cleft palate associated with severe vertebral anomalies, but there were almost never reports of these vertebral anomalies being associated with clefts of the lip. These findings led Ross and Lindsay7 to hypothesize that there may be a functional developmental relationship between the cervical vertebrae and facial structures. They noted that in the eighth or ninth week of embryonic life the tongue lies between the vertically oriented palatal shelves. Before the formation of the soft palate at about the ninth or tenth week, the head must be lifted from the pericardial region and the mandible and tongue drop to permit the palatal shelves to meet and fuse in the midline. When there is a fusion of the cervical vertebrae, as in the Klippel-Feil syndrome, the mandible may remain compressed against the chest, forcing the tongue to continue to lie between the palatal shelves at a time when palatal closure would norma.lly occur. The result would be a cleft of the palate with no interference in the normal development of the lip and alveolus, R.oss and Lindsay have noted, in support of their hypothesis, that even though persons wit,h Klippel-Feil syndrome may have no cleft palate they still tend to have high palatal vaults. REFERENCES
Fusion of the Cervical 1. Gray, S. W., Romaine, C. B., and Skandalakis, J. E.: Congenital Vertebrate, Surg. Gynec. & Obst. 118: 373, 1964. 2. Kacker, S. K., and Agarwal, K. K.: A Case of Klippel-Feil Syndrome With Congenital Soft Palate, J. Laryng. 79: 556, 1965. 3. Fraser, G. R., and Calnan, J. S.: Cleft Lip and Palate, Seasonal Incidence, Birth Weight, Birth Rank, Sex, Site, Associated Malformations and Parental Age, Arch. Dis. Child. 36: 420, 1961. 4. Martin, B. C., and Trabue, J. C.: Klippel-Feil Syndrome With Associated Deformities: A Report of Three Cases, Plast. & Reconstruct. Surg. 9: 59, 1952. 5. Cohney, B. C.: The Association of Cleft Palate With the Klippel-Feil Syndrome, Plast. & Reconstruct. Surg. 31: 179, 1963. 6. Ross, R. B.: Cranial Base and Cervical Vertebrate in Palate and Prepalate Clefts, Cleft Palate Bull. 10: 60,. 1960. 7. Ross, R. B., and Lindsay, W. K.: The Cervical Vertebrae as a Factor in the Etiology of Cleft Palate, Cleft Palate J. 2: 273, 1965.