Berardinelli-Seip syndrome type 2 - An Egyptian child

We report a 2.5 year old male, first in order of birth of first cousin consanguineous parents with the typical features of Berardinelli-Seip congenital lipodystrophy 2 [BSCL2] since birth with moderate mental retardation. He had generalized lipodystrophy with various dermatologic and systemic manifestations. The patient looked older than his age with the loss of buccal pad of fat, hypertrichosis mainly on the back and lower limbs, thick scalp hair, mild prognathism, large hands and feet with prominent joints and muscular hypertrophy. Acanthosis nigricans was evident over the neck and both axillae inspite of the normal level of sugar and insulin. The abdomen was markedly prominent with mild hepatosplenomegaly and enlarged external genitals. Echo-cardiog-raphy demonstrated cardiac hypertrophy. Triglyceride level was high with reduced high density lipoproteins [HDL]

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]

Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo - Egypt

Oculocutaneous albinism [OCA] is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors in albino patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University, Cairo, Egypt. We used the outpatients index files to identify diagnosed cases of albinism referred from the dermatologic and ophthalmologic departments with different genodermatoses over 43 year period. We used specifically designed data collection protocol forms to extract epidemiological and clinical data from the patients medical records. These were entered into a computer database and analyzed using standard statistical software. The occurrence rate of albinism in our study was 20.4% of genodermatoses patients and 1 per 5843 patients attending the Pediatric hospital. Consanguineous marriage was reported among parents of 66.37% of patients and positive family history was reported in 46.01% of patients. Complete OCA was detected in 48.59% of patients, partial albinism in 41.59% of patients and syndromic albinism was detected in 7.96%. Associated genomic errors were detected in 36.28% of our albino patients and seventy one multiple mutant genomic errors were defined among relatives of thirty seven index families of oculocutaneous albinism patients. To the best of our knowledge, this preliminary study is the first report of its kind from Egypt. The high rate of parental consanguinity among the parents of our Egyptian albino patients may account for the frequency of this genodermatosis in Egypt

Ellis-van Creveld syndrome with facial dysmorphic features in an Egyptian child

Ellis-van Creveld syndrome [EVC] is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. We report a patient with the typical features of the syndrome but with facial dysmorphic features [upward slant of eyes, megalocornea and high forehead], for the first time in the literature