Bharucha Ba

Deletion of short-arm of chromosome 20:46 XX, del (20) (p 11) with unusual skeletal features.

Chromosomal anomalies in the form of deletions are suspected when the patient presents wiih multiple congenital anomalies. At least 6 cases of deletion 20p (11) have been reported in literature. We present a 6�89 year old female child with the same chromosomal anomaly. This case was detected to have certain unusual and striking skeletal abnormalities on radiography.

Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis

Siblings with multiple sulfatase deficiency, a rare variant of metachromatic leukodystrophy are described. The diagnosis was based on clinical findings and confirmed by leukocyte enzymes estimation, tissue histopathology and histochemistry. The condition is briefly reviewed, and its hall-mark-the combination of features of metachromatic leukodystrophy (MLD) and mucopolysaccharidosis (MPS) are highlighted.

Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature

A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15‐year‐old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD). The clinical features of reported cases are analyzed. The only consistent features were growth retardation and mental deficiency. Breakpoint in all the cases has been at the telomeric region with minimal deletion of chromosomal material. An account of complex changes at mitosis and meiosis in ring chromosome has been given. Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, ‐12. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome.

Diagnostic approach to coarse facies

Differential diagnosis of coarse fades with a plan of investigations is presented. An algorithm has been devised for cases of mucopolysaccharidoses.

The mucopolysaccharidoses: A study of 48 cases

Based on precise diagnostic criteria, 48 cases of mucopolysaccharidoses (MPS) were recognized among 4604 cases referred over 7 years to a specialized Genetics Clinic, giving an incidence of 1.04% of all referred cases and 13.8% of all cases with inborn errors of metabolism (IEM). The subtypes seen most frequently were MPS IVA, MPS VI and MPS II. Most cases presented between 2–5 years of age with onset of symptoms since infancy. An unusually low frequency of skin lesions in patients with MPS II, 9/48 cases with hearing defects, six cases with cardiac disease and one child with paraparesis were some of the clinical manifestations noted. Radiological, biochemical and enzymatic studies are detailed. Clinical problems related to diagnosis of MPS are discussed.

Congenital and Inherited Ophthalmologic Abnormalities

Objective : To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities.Methods : Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded.Result : Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest).Conclusion : Upto 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.

Craniosynostosis with Marfan syndrome, hand and foot anomalies

We report a patient with various connective tissue abnormalities suggesting a distinctive connective tissue disorder combining some features of the Marfan syndrome with craniosynostosis and hand and feet anomalies.

Supernumerary limbs : A case report of a rare congenital anomaly

We report a case of an 18-month-old female who presented with three supernumerary upper limbs of varying lengths on the right side. Each limb had a proximal, middle, and distal segment, and an intercalated elbow and wrist joint. A single digit was present in the superior limb, three digits in the middle limb, and two digits in the caudal-most limb. Right plagiocephaly, congenital torticollis, scoliosis involving the upper and mid thoracic region, and a hypoplastic right pectoralis major were the other abnormal features noted. Radiography showed two scapulae, humerus, a single forearm bone in each limb, and rudimentary metacarpals and phalanges. Limb duplication may rarely be encountered in parasitic conjoined twins. The role of mutagens, drugs, cellular contributions, and morphogens in the growth and differentiation of limbs has been studied in animals. It is rather difficult to deduce the time of action of the factors responsible for such a malformation.

Autosomal dominant ectrodactyly with sensorineural deafness.

Ectrodactyly or split hand/split foot malformation as it is now known, is a rare developmental disorder sometimes associated with other systemic malformations. Very few cases of congenital hearing loss coexisting with ectrodactyly have been reported world-wide. We profile one such family with the father and daughter being affected with bilateral foot ectrodactyly minor abnormalities of the 5th fingers and severe sensorineural hearing loss (SNHL). The inheritance in this family was likely to be autosomal dominant. There were no cytogenetically demonstrable structural aberrations in either case.

Familial glucocorticoid deficiency, alacrimia and achalasia--Allgrove syndrome.

We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case. The younger siblings were neurologically normal. The familial association of achalasia, alacrimia and adrenal insufficiency, rather than being fortuitous, is a distinct clinical entity.