Post‐natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome?

Abstract

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.

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders

“…Almost all of these are syndromic conditions, with a combination of clinical features not described elsewhere. For instance, variants of MCA/MR (multiple congenital anomalies/mental retardation) conditions with new constellations of features [14,15], novel phenotypes associated with genes known to cause other related genetic diseases [16,17], and other syndromic congenital disorders [18,19]. The absence of these disorders in other genetic databases like OMIM points to the rarity of these conditions.…”