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Congenital malformation that mainly involved the face, thorax, and genitalia.

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Only two cases reported in the literature. The first case was described by R. Wilf-Miron and R.M. Goodman in 1987.

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Believed to be transmitted as an autosomal recessive trait.

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Diagnosis is clinical based on the dysmorphic findings. This syndrome has some characteristics similar to the Smith-Lemli-Opitz syndrome and the Aarskog-Scott syndrome. Affected patients present with facies characterized by the presence of microphthalmia, asymmetrical ears, anteverted nares, long flat philtrum associated with a thin upper lip, and micrognathia. The thorax features an important pectus excavatum and widely spaced nipples. The genitalia defect includes a “saddlebag” configuration of the scrotum associated with a prominent raphe and hypospadias. Other minor anomalies include the widening of the thumbs and great toes with hypoplastic nails and the presence of a prominent crease on the ventral aspect of the feet. No skeletal, renal, or cardiac anomalies noted.

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Craniofacial features suggest a potential for difficult laryngoscopy and tracheal intubation. Proper evaluation of the airway must be conducted prior to induction of anesthesia. Maintenance of spontaneous ventilation until the airway has been secured and ventilation confirmed is highly recommended.

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Aarskog Syndrome: X-linked disorder characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal relations (“saddlebag ” or “shawl” scrotum). Occurrence of ligamentous laxity manifested by hyperextensibility of the fingers, genu recurvatum, and flat feet. A very important characteristic is the presence of cervical hypermobility with anomaly of the odontoid that may result in neurologic deficit during extension. Believed to be transmitted as a sex-influenced autosomal dominant inheritance.

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Smith-Lemli-Opitz Syndrome Type I: Characterized by severe growth retardation, developmental delay, severe dysphagia, microcephaly, micrognathia, cleft palate, cataracts, ptosis, polysyndactyly and syndactyly of the second and third toes, and congenital heart defects (transposition of the great vessels frequent). Congestive heart failure and liver failure are not uncommon.

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Multiple Osteochondritis Dissecans: Characterized by hypertelorism, cryptorchidism, digital contractures, sternal deformity, and osteochondritis dissecans at multiple sites. Early fusion of the manubrium and corpus sterni occurred. Transmitted most probably as an autosomal dominant inheritance (with sex influence).

Wilf-Miron R, Goodman RM: Facio-thoraco-genital syndrome: A newly recognized birth defect syndrome. J Craniofac Genet Dev Biol 7:19, 1987.  [PubMed: 3597718]

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