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Presumed genetic disorder causing short stature, hand abnormalities, and mild intellectual impairment.

BOD Syndrome.

Only about 10 cases have been reported in the literature. The exact mode of inheritance is unclear but is postulated to be autosomal dominant. Although the syndrome has features in common with Coffin-Siris syndrome, it is distinguishable by a milder phenotype and less severe intellectual impairment.

Features include intrauterine, proportionate growth retardation, postnatal dwarfism, hypoplastic or aplastic fifth digits, hypoplastic or aplastic fingernails, and abnormal phalanges. All affected individuals have facial dysmorphism with a large mouth, pointed chin, broad nose, and flat malar area. Some patients have mild intellectual impairment and microcephaly. Radiologic findings include aplasia, hypoplasia, or fusion of the fifth digit or toe and brachymesophalangism. One of the affected individuals had cystic adenomatoid malformation of the lungs, however, this does not appear to be a consistent feature of the syndrome. Life expectancy is normal.

Careful intraoperative positioning is needed, but can be difficult. Venous access may be difficult. Pulse oximetry can be difficult. Patients with mild intellectual impairment may benefit from sedative premedication. The facial dysmorphism of the syndrome usually is not associated with difficult airway management.

Coffin-Siris Syndrome: Probably autosomal dominant transmitted syndrome with developmental delay, hypoplasia of the fifth digit nails and phalanges, sparse scalp hair, bushy eyebrows, wide mouth, hirsutism, and prominent or hypertrophied lips.

Senior B: Impaired growth and onychodysplasia: Short children with tiny toenails. Am J Dis Child 122:7, 1971.  [PubMed: 5567413]
Verloes A, Bonneau D, Guidi O, et al: Brachymorphism-onychodysplasia-dysphalangism syndrome. J Med Genet 30:158, 1993.  [PubMed: 8445623]

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