Baraitser-winter syndrome: an additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser-Winter syndrome [BRWS]. The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinopha-langeal syndrome [TRPS] II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8[q23.3-q24.1]

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachriodactly of both fingers and toes, flexion of thumbs at metacarpoph alengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bron chopneumonia and gastroenteritis