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Genetic disease characterized by multiple cerebral malformation, seizures, hypertrichosis, distinct face, clawhands, and overlapping fingers.

First described in 1993 in a brother and sister, the offspring of first-cousin Kurdish parents.

Only two infants have been described. The karyotype was normal in both sibs. The brother died in a tonic extension spasm at age 4 months.

Autosomal recessive inheritance (very frequently).

Multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, clawhands, and overlapping fingers.

The clinical features described are hydrocephaly, macrocephaly, cerebellar agenesis/hypoplasia, hyperreflexia, corpus callosum/pellucidum agenesis, hypotonia/spasticity/rigidity, camptodactyly, simian crease, coarse/thick hair, overlapping fingers, seizures (any type), pharyngeal abnormality, abnormally placed nipples, and undescended/ectopic testes. Dolichocephaly/scaphocephaly, sutural synostosis (multiple), laryngeal abnormality, synophrys, posterior angulation of and low-set ears with or without anomaly (shape/structure), long philtrum, megaesophagus, microphthalmos, broad nasal root, long/thick lashes, abnormal cry/voice, increased body hair, depressed nasal bridge, deep-set eyes/enophthalmos, and ulnar deviation of fingers can also be associated.

Ascertain adequacy of seizure medication and recent control of convulsions. Special reference should be made to finding any signs of pharyngeal or laryngeal abnormality: stridor (inspiratory/expiratory), wheeze, breathlessness, or strange sounding cry/altered voice. An anesthetic consultation should be obtained.

The position of the head during induction of anesthesia may be difficult to stabilize and may complicate attempts to ventilate and/or intubate the trachea. Pharyngeal or laryngeal abnormalities where present may make tracheal intubation or ventilation impossible. Raised intracranial pressure is a potential hazard, and the presence of a ventriculoperitoneal shunt requires antibiotic prophylaxis. Regional anesthesia should be used where possible.

Chronic phenytoin administration increases nondepolarizing muscle relaxant and fentanyl requirements, produces gingival hyperplasia and bleeding, and may cause hepatic dysfunction. Ketamine, enflurane, and methohexital are relatively contraindicated. Use of high concentrations of sevoflurane during induction should be avoided because of the risk of triggering seizure activity.

Muller FM, Barth GM, Menger H, et al: Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands and overlapping fingers in sibs of both sexes. Am J Med Genet 47:698, 1993.  [PubMed: 8266998]

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