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 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.
Sabry
M A
MA
Medical Genetics Centre, Maternity Hospital, Kuwait.
Ismail
E A
EA
al-Naggar
R L
RL
al-Torki
N A
NA
Farah
S
S
al-Awadi
S A
SA
Obenbergerova
D
D
Bastaki
L
L
D000015:Abnormalities, Multiple / Q000209:etiology*; D000293:Adolescent; D000740:Anemia / Q000235:genetics; D002648:Child; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012867:Skin / Q000473:pathology; D013577:Syndrome; D013601:T-Lymphocytes / Q000473:pathology