Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait

We studied 21 patients with Sanjad-Sakati syndrome [SSS] from 16 families. Parental consanguinity was recorded in 2 families [12.5%]. All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp [155-166del] in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers

morpho-etiological description of congenital limb anomalies

Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. In a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations. Fetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases [12.9%] with chromosomal aberrations [trisomy 13, 18 and 21, duplication 13q and deletion 22q] and 30 cases [42.9%] with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases [15.7%] as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption [Poland sequence, sirenomelia and general vascular disruption] and an infant with a diabetic mother. Twenty cases [28.5%] had limb anomalies as part of sporadic syndromes of unknown etiology. The morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis

Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait

In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction [PCR] testing. Twenty patients [11%] were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. Of these, 11 [55%] were confirmed fragile-X-positive by both cytogenetic and PCR techniques. The most frequent clinical features were: prominent forehead, high arched palate, hyperextensible joints, long ears, prominent jaw, height > 10th centile and attention-deficit hyperactivity. Less common were avoidance of eye contact [45%], autism [45%] and seizures [30%]. Large testes were found in 55% of cases. Pre-pubertal and post-pubertal clinical criteria were different

Neural tube defects in Kuwait: an overview study

One hundred and seventy seven patients with neural tube defects [NTD] were ascertained clinically and genetically in order to provide an overview of the neural tube defects in Kuwait, and to study some risk factors which may contribute to NTD. Of these patients, 48 cases were delivered in the maternal hospital, out of 11125 total live births making an incidence of 4.3/1000 which is considered high. The male to female sex ratio was 1:1.46. The mean maternal age was 27.44 +/- 6.17 while the mean paternal age was 32.54 +/- 7.69. Polyhydramnios was associated in 53.7%, abnormal presentation in 14.1%, associated anomalies in 38.4%, abnormal mode of delivery in 27.1% and prematurity in 19.8%. Chromosomal abnormalities was recorded in one case [0.6%] while autosomal recessive inheritance was recorded in 7.9%, multifactorial inheritance in 88% and genetic uncertain in 3.4%. The range of clinical manifestations showed wide spectrum of variability including meningocele / myelomeningocele at different sites [62%] anencephaly [24.9%], inencephaly [5.1%], Meckel Gruber [6.81%] and myelomeningocele with VATER association [0.5%]. Young maternal age, parity, polyhydramnios abnormal presentation and abnormal mode of delivery were found to be risk factors

Proteus syndrome in an Arab child

We report on the first Arab boy with Proteus syndrome. He showed multiple lipomata, macrodactyly of right foot, a large hemangioma, giant cafe'-au-lait spot, cerebroid gyriform configuration of the soles and hydrocele. There was no macrocephaly, skull exostoses or neurological involvement. His mother has mild hemihypertrophy of the left foot which raises the possibility of an autosomal dominant mode of inheritance