Mohr-Claussen Syndrome: A Rare Case

Oro-facial-digital syndrome type II (Mohr-Claussen syndrome) SWISS SOCIETY OF NEONATOLOGY

Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II.

The Mohr-Claussen syndrome or oro-facial-digital syndrome type II (OFD-II)] is characterised by tongue lobulation, midline cleft lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss and normal intelligence. In view of the different modes of inhe...

A Rare Case of Budd Chiari Syndrome in a Child

A 7-year- old male child presented with the complaints of tense abdominal distension and swelling over feet since 1 month. The patient had repeated episodes of similar complaints since last two years with partial or complete relief after taking various forms of allopathic therapy. On imaging, Budd-Chiari syndrome was diagnosed which was hallmarked by occluded Inferior venacava (IVC), caudate lo...

Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)

Background. The orofaciodigital syndromes (OFDS) are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cl...

Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report

Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...