Robinow Syndrome of Two Brothers

Two brothers with Martsolf's syndrome.

Two brothers affected by a syndrome consisting of short stature, hypogonadism, and severe mental retardation are reported. The syndrome shares the features of that described by Martsolf et al in two brothers born to a consanguineous Polish Jewish couple. Although our patients' parents are Sephardic Jews, they deny consanguinity. These observations and personal knowledge of another affected Jewi...

Report on Two Pairs of Brothers Showing Marfan's Syndrome.

Ehlers-Danlos Syndrome (TYPEI) with Mental Retardation -an Unusual Association (Reports on Two Brothers)

Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) an...

Unusual traits associated with Robinow syndrome.

We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 pos...

Sjögren-Larsson syndrome in two brothers: a case report

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...