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Inherited polymalformative syndrome originally described in two Mennonite sisters of consanguineous parents.

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Osteopenia-Mental Retardation-Sparse Hair Syndrome.

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Only two cases described, so far. Autosomal recessive inheritance.

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Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. Musculoskeletal abnormalities include hyperextensible joints, osteoporosis and osteosclerosis, and syndactyly of toes.

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Craniofacial abnormalities require careful assessment of the airway for difficult face-mask ventilation or laryngoscopy. Careful positioning is mandatory to avoid fractures. Mental retardation may result in decreased patient cooperation and sedative and/or anxiolytic premedication and the presence of the primary caregiver for induction of anesthesia may be helpful.

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Osteogenesis Imperfecta Congenita (Type II): Severe form of osteogenesis imperfecta often fatal in early life, in contrast to Kaler-Garrity-Stern syndrome, collagen in this disorder is defective.

Kaler SG, Garrity AM, Stern HJ, et al: New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters. Am J Med Genet 43:983, 1992.  [PubMed: 1415349]

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