Congenital malformation that mainly involved the face,
thorax, and genitalia.
Only two cases reported in the literature. The first
case was described by R. Wilf-Miron and R.M. Goodman in 1987.
Believed to be transmitted as an autosomal
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
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.
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.
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
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