Autosomal recessive multiple pterygium syndrome: A new variant?

Multiple pterygium syndromes include at least 15 different entities charact erized by multiple pterygia or webs of the skin and multiple congenital ano malies. We describe a female infant who presented with a distinct constella tion of multiple anomalies consisting of pterygia of the inguinal, intercru ral and popliteal areas, flexion contractures and arthrogryposis of some jo ints, craniofacial anomalies including ectropion, medial canthal web, bleph arophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal co rds and tongue, micrognathia, orolabial synechiae secondary to pterygia, lo w set ears, alopecia, sad and expressionless face, short neck, asymmetric n ipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syn dactyly of all fingers and toes, pes equinovarus, bandlike web between feet , and absence of the nails and phalangeal-palmar creases. Radiological exam ination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likel y due to the presence of three similarly affected siblings and normal paren ts. Am. J. Med, Genet. 93:194-197, 2000. (C) 2000 Wiley-Liss, Inc.