Roberts' pseudothalidomide syndrome
Related people
A syndrome present from birth marked by low birth weight (1.5 to 2 kg) and shortness (ca 40 cm), tetraphocomelia (absence of the long segments of all limbs), cleft lip and palate, microbrachycephaly, hypertelorism, shallow orbit, failure to thrive, vitium cordis, prominent eyes, midfacial capillary haemangiomas, thin nares, malformed ears, cleft lip, micrognathia. Ocular disorders may include cataracts, corneal opacity, and colobomas of the eyelids. Enlarged phallus, cryptorchism, enlarged clitoris, enlarged or cleft labio minora, and separate vagina are the principal genital anomalies. Sparse, silver blond hair. Short life expectancy. In the few survivors, severe mental deficiency.
Inheritance is autosomal recessive. Parental consanguinity and occurrence in siblings have been observed in some cases.
Bibliography
- R. Krüger:
Die Phocomelie und ihre Übergänge (case 87).
Berlin, A. Hirschwald, 1906: 92. - J. B. Roberts:
A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities.
Annals of Surgery, Philadelphia, 1919, 70: 252. - H. Appelt, H. Gerken, W. Lenz:
Tetraphokomelie mit Lippen-Kiefer-Gaumenspalte und Clitorishypertrophie – ein Syndrom.
Pädiatrie und Pädologie, Wien, 1966, 2: 119-124. - J. Herrmann, M. Feingold, G. Tuffli, J. M. Opitz:
A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the «pseudothalidomide» or SC-syndrome.
Birth Defects Original Article Series, New York, 1969, V (3): 81-89.