Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?
A boy is described with clinical features including post-natal short stature, short limbs, speech delay, relatively large skull, prominent metopic ridge, wide palpebral fissures, proptosis, epicanthic folds, capillary hemangioma between the eyes and nose, flat nasal bridge, everted and small nares, small ears with a narrow external auditory canal and thick lobes, short neck, brachydactyly, bilateral Simian creases, a single flexion crease of the first and fifth fingers, protruding abdomen, and bilateral cryptorchidism. Radiographs did not show any features of bone dysplasia. However, a delayed bone age was noted. The boy's parents are first cousins. To the best of our knowledge, this constellation of anomalies has not been reported before, and may be considered a new syndrome.
Mégarbané
André
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarban@dm.net.lb
Rassi
Simon
S
Estephan
Farid
F
Kouba-Hreich
Edith
E
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001847:Bone Diseases / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D013577:Syndrome