Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings

Schwartz Jampel syndrome is a rare autosomal recessive disease with distinctive clinical features, myotonia and skeletal deformities. Diagnosis is based on clinical findings, electromyogram showing myotonia and radiological findings of platyspondyly, vertebral coronal cleft and metaphyseal and epiphyseal changes of long bones. Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia. The disease is caused by mutations of HSPG2 gene at chromosome 1p36.1 causing deficiency of Perlecan protein and manifested as mild childhood type [type IA] and severe congenital type [type IB]. The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy. As far as our knowledge, this ocular finding was not reported before

Microcephalic osteodysplastic primordial dwarfism [MOPD] type I with severe anemia and MRI brain findings of MOPD type II

We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I [MOPD I]. The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery [ICA] which are consistent with MOPD II

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child

We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot's spots most probably due to vitamin A deficiency. MRI brain revealed agenesis of the corpus callosum

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

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]

Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser-Winter syndrome

Baraitser-Winter syndrome [BRWS] is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcor-nea, iris, choroid, and optic nerve coloboma, retinal detachment, and mental retardation. She has also frontal bossing, prominent forehead, thick eyebrows, transverse slanting, hypertelorism, wide palpebral fissures, and nystagmus. The nose is broad, and bulbous with wide nares, and broad nasal tip. She has also low set posteriorly rotated ears, full cheeks, long philtrum, large mouth [macrostomia], gum hypertrophy, decayed teeth, high arched palate, pointed chin, short neck, low posterior hair line, partial left simian crease, and short fingers. MRI brain shows frontal poly-microgyria. This patient represents a mild case of Baraitser-Winter syndrome