Inherited polymalformative syndrome
originally described in two Mennonite sisters of consanguineous parents.
Osteopenia-Mental Retardation-Sparse Hair Syndrome.
Only two cases described, so far. Autosomal recessive inheritance.
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.
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.
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