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

Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait

We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. Of 7739 live and still births born over this period, 97 babies had major congenital malformations [12.5/1000 births]: 49 [50.6%] babies had multiple system malformations, while 48 [49.4%] had single system anomalies. Of the 49 babies with multiple malformations, 21 [42.8%] had recognized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. Isolated systems anomalies included central nervous system [12 cases], cardiovascular system [9 cases], skeletal system [7 cases] and gastrointestinal system [6 cases]. Of the parents, 68% were consanguineous. Genetic factors were implicated in 79% of cases. Genetic services need to be provided as an effective means for the prevention of these disorders

Down's syndrome in Kuwait: recurrent familial trisomy 21 in sibs

To study the families with recurrent trisomy 21 in sibs, and to understand the increased risk of recurrence in some selected families. The importance of parental mosaicism as a cause for non-disjunction or the possibility of genetic predisposition to non-disjunction is addressed. Three young unrelated Kuwaiti families each confirmed to have 3 sibs with regular trisomy 21 were investigated. Detailed chromosome analysis of the peripheral blood culture in Down's syndrome children and their parents was carried out. At least 100 cells in each of the cases were scored to exclude low grade mosaicism. Regular trisomy 21 was confirmed in all the sibs in the three families. Mosaicism was not detected in parents. However, gonadal tissue mosaicism could not be excluded, as it is not practical to study the gonadal biopsy in the parents. Though parental mosaicism [gonadal, more often maternal], has been reported in familial recurrent trisomy 21 cases, no mosaicism could be confirmed in our study. Our finding suggests that the possibility of a genetic predisposition to non-disjunction parental mosaicism should be considered in counselling families having sibs with trisomy 21

Double aneuploidy: 48, xxy,+ 18 in a bedouin boy

This study describes a case of double aneuploidy [48,XXY,+18], makes genotype-phenotype correlation of the case and compares it with those in the literature. This study throws more light on the origin of double aneuploidy. Clinical examination, skeletal survey, echocardiography, cranial ultrasonography and chromosomal examination of a peripheral blood sample using GTG-type of banding were performed. Clinical examination of the 25-day-old boy showed craniofacial dysmorphic features suggestive of trisomy 18, ventricular septal defect and complicated postnatal events leading to his neonatal death. Skeletal survey demonstrated absence of ossification centers of the epiphyses of long bones. Cranial ultrasonography revealed bilateral ventriculomegaly with thin cerebral cortex. Chromosomal analysis showed 48,XXY,+18 karyotype with no evidence of mosaicism. In the very few reported cases of double aneuploidy involving autosomes and sex chromosomes the clinical manifestations of the sex chromosome abnormality are usually missing. Double aneuploidy reflects a more serious segregation defect of meiosis than simple nondisjunction, and is not simply the result of the rare coincidence of paternal and maternal nondisjunction

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

Distal 10 q trisomy: a clinically recognizable syndrome

The clinical abnormalities encountered in this female child with partial trisomy for the distal part of the long arm of chromosome 10 [10q24 -qter] are similar to previously reported cases with craniofacial dysmorphia, hand and feet anomalies, growth retardation, delayed development and hypotonia. Trisomy for this segment was due to paternal balanced translocation. The importance of chromosome analysis on all cases with multiple congenital abnormalities/mental retardation is stressed

Familial hypergonadotrophic hypogonadism with partial dysplasia of skin appendages: a new autosomal recessive syndrome

Two sisters are described with premature gonadal failure, partial dysplasia of some skin appendages and normal chromosomal constitution. They were shown to have primary hypogonadism similar to that of gonadal dysgenesis XX type. A brother had clinical, endocrinological and histopathological features similar to those attributed to the Sertoli Cell Only Syndrome. Another brother and four sisters were normal adults whilst a third brother was pre-pubertal and normal