Minor physical findings including hypertelorism, epicanthal folds, up-slanting palpebral fissures, clinodactyly
, overriding digits, pectus excavatum and pes planus can be seen (2,3).
ARID1B is associated with the Coffin-Siris syndrome [26-28], and the clinical features of the patient 2 are compatible with this diagnosis (mainly the neonatal eating disorders, ID, motor and speech delay, hypertrichosis, synophrys, dystrophic toenails, clinodactyly
, and short fingers).
In most cases, anomalies including hypertelorism, epicantus, upward-slanting palpebral fissures, clinodactyly
in the fifth finger, short nail folds, pes planus, joint laxity, dental problems and radioulnar synostosis have been identified (4, 7).
Additionally there was medial inclination of index finger and clinodactyly
of 5th finger.
protruding tongue, small low set ears, upward slanted eyes with epicanthic fold, short neck, short and broad hands, transverse single palmar crease, clinodactyly
, a large space between toes (sandal gap), hypotonia and delayed milestones.
The respiratory and heart rates were 80/min and 160/min respectively, The patient had a flat midface, widely set eyes, mild ptosis, short philtrum and a triangular mouth; polythelia, foot and hand anomalies with clinodactyly
were also noted (Fig.
There was frontal and parietal bossing, open anterior fontanelle, hypertelorism, depressed nasal bridge, high arched palate, supernumerary teeth, and clinodactyly
. She also had bilaterally absent clavicles, bilaterally hypermobile shoulders which could be approximated in the midline, (Fig.
The digital manifestations are brachydactyly, polydactyly, syndactyly, clinodactyly
and duplicated hallux.
is almost invariably present, resulting from the side-to-side variations in the accelerated rate of growth (3).
Because of the asymmetry of these tendon insertions, the clinical manifestation of this injury in the young mimics a mallet finger and a clinodactyly
Classic phenotypic findings include brachycephaly, epicanthal folds, palpebral fissures, macroglossia, neck skinfolds, clinodactyly
, single transverse palmar creases, and widely spaced first and second toes (Nehring, 2010).