Faciothoracogenital Syndrome

Wilf-Miron and Goodman (1987) described a Moslem Arab male infant, with healthy first-cousin parents, who had a seemingly 'new' congenital malformation syndrome that mainly involved the face, thorax, and genitalia. Facial features were microphthalmia, anteverted nares, long, flat philtrum, thin upper lip, and micrognathia. Pectus excavatum and widely spaced nipples were the thoracic features. The genitalia showed a saddle-bag configuration of the scrotum with a prominent scrotal raphe and mild glanular hypospadias. The thumbs and great toes were somewhat wide, and the nails, particularly those of the toes, were hypoplastic. A prominent crease was found on the ventral surface of the foot. Some of the features suggested Aarskog syndrome (305400) and others suggested the Smith-Lemli-Opitz syndrome (270400).