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An inherited disease with facial deformations, severe
mental retardation, and acral limb deficiencies.
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Growth Retardation, Mental Retardation, Phalangeal
Hypoplasia Syndrome.
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Extremely rare; autosomal
recessive.
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Features include malformations of the face
(partial mandibular absence, narrow forehead, low hair line) and limbs
(small feet and hands, terminal hypoplasia of the toes and fingers, small or
absent toenails and fingernails) in combination with neurologic anomalies
(severe mental retardation, seizures, generalized hypotonia). Intrauterine
growth retardation and postnatal growth failure resulting in short stature
have been reported.
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Anesthesia in this disorder has not been
described. The features of the syndrome suggest mask ventilation and direct
laryngoscopy may be difficult. Chronic antiepileptic treatment can alter the
metabolism of some anesthetic agents.
Cartwright J, Nelson M, Fryns JP: Preand postnatal growth
retardation—severe mental retardation—acral limb deficiencies with
poorly keratinized nails. Another example of a distinct syndrome of
inherited intrauterine dwarfism?
Genet Couns 2:147, 1991.
[PubMed: 1801850]