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Shawl scrotum syndrome (Aarskog-Scott syndrome)
249
MINOR SYNDROMES
Prader-Willi
Syndrome
By Herbeh J. Kaufmann This is a male preponderant anomaly with no known hereditable basis. Neonatal hypotonia, sexual infantilism, obesity, and severe mental retardation are the clinical hallmarks. The patients are small in stature from birth. The bones of the hands and feet are small with thin cortices. The extremities are unequal in length and there is coxa valga and kyphosis. Excess adipose tissue with decreased muscle mass is seen. Wormian bones and small sella are common. Dental caries and enamel hypoplasia are frequent. References:
1. Hall BD, et al: J Pediatr 81:286, 1972 2. Pearson KD, Steinbach
HL, Bier DM:
Radiology
100:369,
1971
Shawl Scrotum
Syndrome
( Aarskog-Scott
Syndrome)
By Robert J. Gorlin This disorder is characterized by short stature, genital anomalies, and unusual facies. It appears to be inherited as an X-linked recessive trait. The female heterozygote tends to be short. Ocular hypertelorism with ptosis of the upper eyelids combined with a stubby broad nose and anteverted nostrils characterize the facies. Growth retardation usually becomes evident between 2-4 yr of age. Adults rarely exceed 160 cm. Roentgenographically, striking changes are generally limited to the cervical spine and hands. There is hypoplasia of the first cervical vertebra with an unfused posterior arch. There may be subluxation of Cl and C2. The terminal phalanges of the fingers and the middle phalanx of the fifth finger are hypoplastic. The scrotum appears bifid with scrotal fold extended ventrally around the base of the penis somewhat resembling a shawl thrown about the neck (“shawl” scrotum). Presumably this results from failure of caudal shift of the fused labioscrotal folds. In some patients, one or both testes is undescended. Inguinal hernia has been a common feature. Bilateral simian creases and single flexion creases in the fifth fingers are frequent. References:
Seminars
1. Aarskog D: J Pediatr 77:856, 1970; Birth Defects 7:235, 1971 2. Scott CI Jr: Birth Defects 7:240, 1971
in Roentgenology,
Vol. VIII, No. 2 (April),
1973
MINOR SYNDROMES
Prader-Willi
Syndrome
By Herbeh J. Kaufmann This is a male preponderant anomaly with no known hereditable basis. Neonatal hypotonia, sexual infantilism, obesity, and severe mental retardation are the clinical hallmarks. The patients are small in stature from birth. The bones of the hands and feet are small with thin cortices. The extremities are unequal in length and there is coxa valga and kyphosis. Excess adipose tissue with decreased muscle mass is seen. Wormian bones and small sella are common. Dental caries and enamel hypoplasia are frequent. References:
1. Hall BD, et al: J Pediatr 81:286, 1972 2. Pearson KD, Steinbach
HL, Bier DM:
Radiology
100:369,
1971
Shawl Scrotum
Syndrome
( Aarskog-Scott
Syndrome)
By Robert J. Gorlin This disorder is characterized by short stature, genital anomalies, and unusual facies. It appears to be inherited as an X-linked recessive trait. The female heterozygote tends to be short. Ocular hypertelorism with ptosis of the upper eyelids combined with a stubby broad nose and anteverted nostrils characterize the facies. Growth retardation usually becomes evident between 2-4 yr of age. Adults rarely exceed 160 cm. Roentgenographically, striking changes are generally limited to the cervical spine and hands. There is hypoplasia of the first cervical vertebra with an unfused posterior arch. There may be subluxation of Cl and C2. The terminal phalanges of the fingers and the middle phalanx of the fifth finger are hypoplastic. The scrotum appears bifid with scrotal fold extended ventrally around the base of the penis somewhat resembling a shawl thrown about the neck (“shawl” scrotum). Presumably this results from failure of caudal shift of the fused labioscrotal folds. In some patients, one or both testes is undescended. Inguinal hernia has been a common feature. Bilateral simian creases and single flexion creases in the fifth fingers are frequent. References:
Seminars
1. Aarskog D: J Pediatr 77:856, 1970; Birth Defects 7:235, 1971 2. Scott CI Jr: Birth Defects 7:240, 1971
in Roentgenology,
Vol. VIII, No. 2 (April),
1973