Parental consanguinity and the Majewski syndrome.

AUTOR(ES)

Black, I L

RESUMO

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 support to this hypothesis, as the infant was born to consanguineous parents.

Documentos Relacionados

• Ocular pathology of the Majewski syndrome.
• Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
• Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.
• Severe pseudoachondroplasia with parental consanguinity.
• Parental Dermatoglyphics in Down's Syndrome. A Ten-year Study