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Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

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Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. Clinically, the disorder is closely related to Bardet-Biedl syndrome. Few cases

dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome.

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Small supernumerary marker chromosomes (sSMCs) derived from the near-centromeric area of chromosome 2 are very rare. In addition, duplications of the 2p11.2-->q11.2 region have displayed considerable variability between patients harboring and lacking clinical findings. Moreover, constitutional

Maternal vitamin A deficiency and neonatal microphthalmia: complications of biliopancreatic diversion?

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Biliopancreatic diversion (BPD) for morbid obesity carries a serious risk of nutritional deficiencies that might impair embryogenesis. Consequently, attention should be given to the potential of risk to the fetus of BPD in women of childbearing age. We present the case of a pregnant woman who had

Lysosomal stress in obese adipose tissue macrophages contributes to MITF-dependent Gpnmb induction.

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In obesity, adipose tissue (AT) contains crown-like structures where macrophages surround nonviable adipocytes. To understand how AT macrophages (ATMs) contribute to development of insulin resistance, we examined their character in more detail. In silico analysis of F2 mouse populations revealed

Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?

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We report two sibs with an undescribed MCA/MR syndrome. Both had a 46,XY chromosome constitution. The first patient is profoundly mentally retarded. Clinical features include short stature, coarse face, deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina

Sirenomelia and severe caudal regression syndrome.

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OBJECTIVE To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature. METHODS Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and

Vitamin A and micronutrient deficiencies post-bariatric surgery: aetiology, complications and management in a complex multiparous pregnancy.

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Adequate vitamin A is essential for healthy pregnancy, but high levels may be teratogenic. We present a patient who underwent bariatric surgery, prior to child bearing, and suffered maternal and foetal complications during eleven pregnancies, possibly associated with vitamin A deficiency, amongst

Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?

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Pregnancy after bariatric surgery is usually considered safe. Recently, a few studies reported that bariatric surgery represents a risk factor for birth defects. A case series of six patients, born from women who had undergone biliopancreatic diversion, is reported. The clinical pattern was

Malnutrition in pregnancy following bariatric surgery: three clinical cases of fetal neural defects.

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OBJECTIVE Bariatric surgery results in decreased food intake and a variable degree of malabsorption. Without adequate supplementation, the most common complications of this surgery are nutritional disorders. Pregnancy following surgery for obesity is a particular condition requiring strict

CHARGE Association.

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We present here a case of 17-year-old boy from Kolkata presenting with obesity, bilateral gynecomastia, mental retardation, and hypogonadotrophic hypogonadism. The patient weighed 70 kg and was of 153 cm height. Facial asymmetry (unilateral facial palsy), gynecomastia, decreased pubic and axillary

TUBGCP4 - associated microcephaly and chorioretinopathy.

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Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma

Antioxidative and Anti-Melanogenic Activities of Bamboo Stems (Phyllostachys nigra variety henosis) via PKA/CREB-Mediated MITF Downregulation in B16F10 Melanoma Cells.
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Phyllostachys nigra var. henosis, a domestic bamboo species, has been attracting much attention; its bioactive compounds (especially in the leaf) show antioxidant, anti-inflammatory, and anti-obesity activities. Little information is available on the antioxidative and anti-melanogenetic activities

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
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So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent

Ocular malformation in a newborn secondary to maternal hypovitaminosis A.
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We report a case of microphthalmia, inferior adherent leukoma, and optic nerve hypoplasia in an infant whose mother underwent biliopancreatic diversion surgery for obesity 7 years before his birth. The pregnancy was complicated by severe, maternal hypovitaminosis A despite oral supplementation. The

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