Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?
A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.
Sabry
M A
MA
Kuwait Medical Genetics Centre, Sulibikhat.
al-Saleh
Q
Q
al-Saw'an
R
R
al-Awadi
S A
SA
Farag
T I
TI
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics; D001132:Arm / Q000002:abnormalities*; D005314:Embryonic and Fetal Development / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006618:Hip Dislocation, Congenital; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D012600:Scoliosis / Q000151:congenital* / Q000235:genetics