The schistosomus reflexus (SR) etymologically refers to an abdominal and or thoracic cleft with eventration of viscera. This pathology is a rare lethal congenital syndrome in calves, lambs, goat kids. condition likely caused by various factors such as endocrine, metabolic, hereditary, teratogenic the first third gestation, leading disorders embryonic development. In this report, 3-year-old fema...

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reporte...

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to ...

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-mo...

Waardenburg syndrome is an inherited autosomal dominant disorder consists group of rare genetic conditions. Mutation in the PAX3, MITF, SOX10 and SNAI2 genes are known as main cause for it. There four types differing phenotypic characteristics described. This characterized by congenital deafness or some degree hearing loss, different color eyes with various depigmentation skin hair, increased i...

Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cas...

There is a widespread conviction that people distinguish two kinds of acts: on the one hand, acts that are generalisably wrong because they go against universal principles of harm, justice, or rights; on the other hand, acts that are variably right or wrong depending on the social context. In this paper we criticise existing methods that measure generalisability. We report new findings indicati...

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of featu...

BACKGROUND X-linked dystonia-deafness syndrome (DDS) is characterized by early-onset deafness followed by progressive dystonia in adulthood. Only 4 families with the syndrome have been reported, and all were white. OBJECTIVE To describe the first nonwhite family with X-linked DDS, involving 5 affected males in 4 generations. RESULTS Clinical features of the family members, who were Japanese...