SUMMARYHypoparathyroidism is an uncommon endocrine deficiency characterised by low serum calcium, absent or inappropriately low parathyroid hormone and normal or high serum phosphorus levels. Parathyroid hormone is essential for calcium homoeostasis. Pregnancy and lactation are known for increased calcium requirement. They cause calcium stress as well as alter its metabolism. Hence, many abnormalities are expected in hypoparathyroidism during pregnancy and lactation. We report a case of pregnancy in postsurgical hypoparathyroidism, which is rarely encountered in antenatal clinics. We describe our clinical, biochemical and therapeutic experience of pregnancy and lactation in this patient with hypoparathyroidism.

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 and great toe and supernumerary digits. We describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene. The newly recognized clinical features in this family include small thenar eminence, sandal gap, broad first metatarsals, mesoaxial polydactyly, and postaxial polydactyly. We provide information on 12 affected family members. We review the literature on how a sequence variation in ZRS may cause such diverse phenotypes.

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 of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS.

Fetal intra-abdominal umbilical vein varix (FIUVV) is a rare pathology and suggests an enlargement of the umbilical vein. Prenatal diagnosis is done through meticulous ultrasound imaging. Management variables are the diameter of varix, presence or absence of turbulent flow, and fetal anomalies. Color and power Doppler ultrasound helps in diagnosis and follow-up and has a critical role in decision-making for intervention. Clinical guidelines for management are not clear. The adverse fetal outcome is usually associated with multiple malformations, turbulent flow, and thrombotic varix. This case study presents the prenatal diagnosis, obstetric management, and neonatal development of a fetus, diagnosed with FIUVV along with a brief review of the literature.