Manisha Goyal

Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis

Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21. Pycnodysostosis can present with both skeletal and extraskeletal features. The index patient presented with cardinal features of short stature, dental and digital anomalies with history of multiple fractures. He, in addition had an unreported finding of white matter hyperintensity suggesting dysmyelination on neuroimaging. Molecular analysis revealed a homozygous insertion of single nucleotide in exon 5 of the CTSK gene that produces the substitution of phenylalanine instead of leucine at position 160 of protein and a premature termination of protein synthesis due to insertion of a stop codon. This mutation (c.480_481insT), (p.L160fsX173) is a novel frameshift mutation. The index case extends the phenotypic spectrum and the list of previously reported mutations in the CTSK gene.

Newborn screening for G6PD deficiency: A 2-year data from North India

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, being present in more than 400 million people worldwide that may lead to neonatal jaundice or hemolytic crisis due to drugs or infections. In our study, we aimed to study the frequency of G6PD deficiency in neonates and the proportion of deficient neonates, who developed neonatal hyperbilirubinemia in the study population. The study was an observational one, conducted at the Division of Genetics of Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, over a 2-year period from January 2011 to December 2012. A total of 6,000 newborns delivered during that period underwent newborn screening on 24-72 h of birth. Neonatal hyperbilirubinemia was presented in 13.3% of the study population. Of female neonates, 16% demonstrated G6PD deficiency. This is worth noting for an X-linked recessive trait. Thus, in view of a high gene frequency for a disorder that is manageable with just elimination of few drugs and foodstuff, we stress the need for a newborn screening program for G6PD deficiency.

Adverse pregnancy outcome in patients with low pregnancy‐associated plasma protein‐A: The Indian Experience

The aim of our study was to examine the association of low pregnancy‐associated plasma protein‐A (PAPP‐A) with adverse pregnancy outcome.

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.

The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation

Craniofrontonasal syndrome (CFNS; OMIM # 304110) is a rare X-linked disorder with greater severity in heterozygous females than in hemizygous males. CFNS is characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, downslant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton. There are very few cases describing association of CFNS with heart defects. We discuss a very rare feature: atrial septal defect in a molecularly confirmed case of CFNS.

The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity

Cutis laxa is a heterogeneous group of diseases, with loose, wrinkled skin folds and hyperelasticity of the skin. There are overlapping of clinical features of the group of syndrome associated with cutis laxa, including congenital cutis laxa, wrinkly skin syndrome and gerodermia osteodysplastica. All these conditions present a challenge to the clinician. Thus, molecular diagnosis is the only way to resolve these phenotypically similar conditions. We hereby describe two Indian patients with wrinkled skin and mild craniofacial dysmorphic features who had molecular confirmation of autosomal recessive cutis laxa.

Sirenomelia, the mermaid syndrome

Sirenomelia is a rare congenital malformation and is characterized by complete fusion of the lower limbs, commonly associated with lethal urogenital and gastrointestinal malformations. Here, we are presenting a case of sirenomelia diagnosed at birth.

Hematometrocolpos and ambiguous genitalia in an Indian girl with axial mesodermal dysplasia spectrum

Axial mesodermal dysplasia spectrum (AMDS) is a developmental defect characterized by features of both caudal regression syndrome and oculo-auriculo-vertebral spectrum. This spectrum of anomalies is probably due to a generalized alteration in mesodermal cell migration during the primitive streak period. We report a female newborn with features of the axial mesodermal dysplasia complex presenting with ambiguous genitalia and hematometrocolpos requiring surgical intervention. The present case highlights the clinical spectrum with rare genital features (ambiguous genitalia and hematometrocolpos) in a patient with AMDS from India. To the best of our knowledge, this is the first case of AMDS with such an unusual presentation.