Mesomelic Dwarfism With Hemivertebrae and Small Genitalia (the Robinow Syndrome)

Autosomal recessive Robinow syndrome

“…The limb shortness is described consistently as mesomelic brachymelia; however, rhizomelic brachymelia, generalized shortness of limbs, or even normal limbs have also been noted [Bain et al, 19861. Vertebral anomalies, first reported by Wadlington et al [1973], were subsequently found in 21/32 ofRS patients [Butler and Wadlington, 19871. In addition, other skeletal anomalies, namely rib defects, scoliosis and pectus excavatum were less frequently described.…”

“…The autosomal dominant entity appears relatively common, and the illustrative families hitherto reported [Robinow et al, 1969;Shprintzen et al, 1982;Vallee et al, 1982;Bain et al, 19861 [Shprintzen et al, 1982;Bain et al, 19861. On the other hand, a number of families suggest autosomal recessive inheritance [Wadlington et al, 1973;Seemanova et al, 1974;Wadia et al, 19781. These include 3 affected sib pairs (a male and a female), normal parents, and one instance of parental consanguinity [Wadia et al, 19781. In addition, there are several instances of reported common ancestor strongly suggests and illustrates the autosomal recessive inheritance in RS and supports its genetic heterogeneity.…”

“…Manifestations included mesomelic short stature, characteristic face, and hypogenitalism. Additional patients were described by Pfeiffer and Muller [1971], Wadlington et al [1973], Vera-Roman [1973], See1 et al [1974], Schinzel et al [1974], Seemanova et al [1974], Gellis et al [1975], Hanssler and Schwanitz [1975], Kelly et al [19751, Giedion et al D9751, Wadia et a]. [1978], Portnoy [1979], Marni et al [1980], Petit et al [1980], Ziska et al [19811, Shprintzen et al [19821, Vall6e et al [19821, Khayat et al [19831, Menon et al [1983], Rodriguez-Costa et al 119841, Bain et al [19861, and Butler and Wadlington [1987].…”

A Case of Robinow Syndrome Accompanied by Partial Growth Hormone Insufficiency Treated with Growth Hormone

“…), mesomelic dwarfism, and genital hypoplasia. Auto somal dominant (McKusick 180700) [2,3] and autosomal recessive (McKusick 268310) [4][5][6][7][8] inheritances have been reported, although most cases have been sporadic. Short stature is one of the characteristic features of this syndrome, but results of endocrinological analysis of growth hormone (GH) have not been reported.…”

Metacarpophalangeal pattern profile analysis in Robinow syndrome

“…Affected patients have short forearms and hands, short stature, flat facial profile with hypertelorism, a short upturned nose, vertebral abnormalities and hypoplastic genitalia. Most cases are sporadic, although autosomal recessive [Wadlington et al, 1973;Seemanová et al, 1974;Wadia et al, 1978;Saal et al, 1985] and autosomal dominant [Robinow et al, 1969;Shprintzen et al, 1982;Vallee et al, 1982] inheritance patterns have been reported. Due to considerable phenotypic variability, early diagnosis may be difficult, especially in females and without other affected relatives.…”