[en] A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan-Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden-Walker syndrome and Tel-Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme phenotypic variant of one of the above-mentioned syndromes.
Barnett K., Shusterman S. (1985) Fetal alcohol syndrome: a review of literature and report of cases. J Am Dent Assoc 3:591-598.
Davenport SLH, Hefner MA, Mitchell JA. (1985) The spectrum of clinical features in CHARGE syndrome. Clin Genet 29:298-310.
Gossage D., Perrin JM, Butler MG. (1985) A 26‐month‐old child with Marden‐Walker syndrome and pyloric stenosis. Am J Med Genet 26:915-919.
Jackson IT, Hussain K. (1990) Craniofacial and oral manifestations of fetal alcohol syndrome. Plast Reconstr Surg 85:505-512.
Pagnan BNA, Gollup TR, Lederman H. (1988) The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature. American Journal of Medical Genetics 29:411-417.
Pashayan H., Pruzansky S., Putterman A. (1973) A family with blepharo‐naso‐facial malformations. Am J Dis Child 125:389-393.
Poznanski AK. The hand in radiologic diagnosis, 2nd ed., Philadelphia:, Saunders; 1984.