THE MOHR AND MAJEWSKI SYNDROMES: OVERLAPPING PHENOTYPES

A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features s...

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...

a review of the overlapping clinical presentation of rett and angelman syndromes, and their underlying mechanisms

rett syndrome is a neurodevelopmental disorder with a unique clinical presentation that occurs almost exclusively in females. angelman syndrome (happy-puppet syndrome) presents with a characteristic face, severe mental retardation, and epilepsy in 80 to 90 percent of cases. rett and angelman syndromes are both part of the spectrum of neurologic disorders associated with autism. their clinical p...

Parental consanguinity and the Majewski syndrome.

We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further suppor...