It is a very rare medical condition that is characterized mainly by osteopenia, mental retardation, and sparse hair.
Osteopenia-Mental Retardation-Sparse Hair Syndrome.
Inherited polymalformative syndrome originally described in two Mennonite sisters of consanguineous parents.
Only two cases have been described. Autosomal recessive inheritance trait is suspected.
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 lung ventilation and/or laryngoscopy for tracheal intubation. 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.
Other conditions to be considered
☞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. It constitutes a disorder characterized by bone fragility, perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.
Nicolaides Baraitser Syndrome (Sparse Hair Mental Retardation Syndrome; NBS; NCBRS): Rare genetic condition characterized by mild-to-severe developmental delays, absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints, broad distal phalanges, but short metacarpals and metatarsals. Other clinical features include mild prenatal growth retardation, moderate postnatal growth retardation, microcephaly, progressive skin wrinkling, thick anteverted alae nasi, long and broad philtrum, large mouth, thin upper and thick lower vermillion, progressive. It has been diagnosed in 100 individuals around the world. It is caused by mutations in the SMARCA2 gene. It was first described in 1993 by Paola Nicolaides, a pediatric neurologist, and Michael Baraitser, a clinical geneticist, both from Great Ormond Street Hospital for Children in London, UK.
et al: New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters. Am J Med Genet
M: An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol