A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Here we describe 33 patients with PYCR1-related ARCL from 27 families with initial diagnoses varying between wrinkly skin syndrome, gerodermia osteodysplastica, De Barsy syndrome or more severe progeria syndromes. Given the difficult differential diagnosis of ARCL syndromes we performed a systematic comparison of clinical features of PYCR1-related ARCL.

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.

Background: Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability.

Materials And Methods: A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland.

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis.

Purpose: The study was undertaken to: (1) describe the characteristic radiological features and problems of management of the loss of one condyle of the femur or tibia following septic arthritis of the knee in infancy and (2) test a hypothesis of the cause of the loss of a single condyle.

Methods: Radiographs of eight children with the loss of one condyle of the femur or the tibia following septic arthritis in infancy were reviewed. The course and outcome in two of these children who underwent reconstructive operations were studied.

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.

We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder.

Maternal systemic lupus erythematosus and autoimmune diseases have been extremely rarely reported to cause rhizomelic chondrodysplasia punctata. We report on a fetus aborted spontaneously at 21 weeks of gestation due to complications of maternal mixed connective tissue disorder. The fetus had micrognathia, a depressed nasal bridge, flat nose, long philtrum, short columella and rhizomelia.

A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation.

Chromosome analysis of cultured lymphocytes from an 18 year old mentally retarded boy with minor dysmorphic features revealed a de novo inverted insertion translocation involving chromosomes 1 and 2. The chromosome complement was interpreted as 46,XY, inv ins(1;2)(q44;p12pter). Parents were phenotypically normal with no chromosomal anomalies.

Prenatal diagnosis of absent pulmonary valve confirmed by autopsy.

Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly. This syndrome is comprised of subtotal or total absence of pulmonary valve leaflets, stenosis of the pulmonary artery orifice, aneurysmal dilation of the main pulmonary artery and ventricular septal defect. We report a case of APVS with neural tube defect detected prenatally at 22 weeks of gestation by echocardiography, and subsequently confirmed by autopsy of the still born fetus.

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation.

2,2,2-Trichloro-N-(3-nitro-phen-yl)acetamide.

In the title compound, C(8)H(5)Cl(3)N(2)O(3), the dihedral angle between the nitro-phenyl ring and the acetamide group is 5.47 (6)°. In the crystal, N-H⋯O and C-H⋯O hydrogen bonds link the mol-ecules into chains running parallel to the b axis.

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition.

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype.

Placental Teratoma Presenting as a Lobulated Mass behind the Neck of Fetus: A Case Report.

Placental teratoma is a rare nontrophoblastic benign tumour, which is thought to arise from germ cells. These tumours contain elements derived from multiple germ cell layers. We report a case of teratoma, where on ultrasound; there were two echogenic masses of 4 cm × 5 cm and 3 cm × 4 cm, arising from the placenta.

Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence.

Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content.

Profile of patients with Von Gierke disease from India.

Molecular diagnosis of Von Gierke disease is possible by mutation analysis of G6PC gene. GSD type 1a cases account for 20 % of glycogenoses in our center. We diagnosed ten unrelated patients with glycogen storage disease based on clinical, biochemical and histopathology investigations.

Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia.

Prenatal diagnosis of 3 HBB gene mutations causing β-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a method identified as control for maternal cell contamination (MCC). Amplicons of the HBB gene from genomic DNA obtained from the blood of a thalassemic first child (proband), both parents, and a chorionic villus sample of their second pregnancy were directly sequenced. A test for MCC was performed by genotyping polymorphic microsatellite markers (D21S11 and D21S1270) by quantitative fluorescence polymerase chain reaction (QF-PCR) and capillary gel electrophoresis.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Costello syndrome is a rare developmental disorder characterized by coarse face, postnatal growth retardation, skin and musculoskeletal anomalies, cardiovascular abnormalities, mental retardation, and tumor predisposition. Dermatological manifestations usually include redundant, soft and thickened skin. Loose skin is especially present over the neck, hands, and feet.

Preimplantation diagnosis of genetic diseases.

One of the landmarks in clinical genetics is prenatal diagnosis of genetic disorders. The recent advances in the field have made it possible to diagnose the genetic conditions in the embryos before implantation in a setting of in vitro fertilization. Polymerase chain reaction and fluorescence in situ hybridization are the two common techniques employed on a single or two cells obtained via embryo biopsy.

Synthesis and pharmacological study of 1-acetyl/propyl-3-aryl-5-(5-chloro-3-methyl-1-phenyl-1H-pyrazol-4-yl)-2-pyrazoline.

A series of 1-acetyl/propyl-3-aryl-5-(5-chloro-3-methyl-1-phenyl-1H-pyrazol-4-yl)-2-pyrazolines were synthesized in one step by condensing suitably substituted propenones, hydrazine and acetic/propionic acid. The newly synthesized pyrazolines were characterized by analytical and spectral data. The new compounds were screened for analgesic and anti-inflammatory activity and most of them showed good activity comparable with that of standard drugs Pentazocin and Diclofinac sodium respectively.

Unusual facial cleft in Fryns syndrome: defect of stomodeum?

Unusual facial cleft in Fryns syndrome: defect of stomodeum?: We report on a fetus with Fryns syndrome. The facial cleft was unusual. There was bilateral cleft lip with cleft palate.