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A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia
Werner mesomelia is characterized by a sequence variation in the specific region (position 404) of the enhancer ZRS of SHH. The phenotype comprises variable mesomelia, abnormalities of the thumb andExpand
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Is coloboma a feature of fetal valproate syndrome?
Clinical summary A 4-year-old boy was brought for evaluation of facial dysmorphism and developmental delay. He was delivered by Caesarean section at term in view of a previous Caesarean section andExpand
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Spectrum of urorectal septum malformation sequence
Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees ofExpand
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Hypoparathyroidism in pregnancy
Hypoparathyroidism is an uncommon endocrine deficiency characterised by low serum calcium, absent or inappropriately low parathyroid hormone and normal or high serum phosphorus levels. ParathyroidExpand
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Prenatal diagnosis and postnatal management of congenital pulmonary airway malformation
Congenital pulmonary airway malformation (CPAM) is a rare developmental lung abnormality. It is also referred as a congenital cystic adenomatoid malformation. The exact etiology is not known yet. TheExpand
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Impact of High Levels of Pregnancy Associated Plasma Protein-A on Pregnancy
Introduction: Routinely performed aneuploidy screen takes into account free beta human chorionic gonadotrophins (β- CG), Pregnancy Associated Plasma Protein-A (PAPP-A), nuchal translucency, andExpand
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Pregnancy associated plasma protein A: An indicator of adverse obstetric outcomes in a South India population
Objective: First trimester aneuploidy screening (FTAS) has become an integral part of antenatal care in most of centers in India. The serum markers used for FTAS are pregnancy-associated plasmaExpand
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A rare combination of amniotic constriction band with osteogenesis imperfecta
Amniotic constriction bands and osteogenesis imperfecta are disorders arising from a collagen defect. We report a rare association of amniotic bands with osteogenesis imperfecta in a child. The childExpand
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Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia
Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibiaExpand