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3‐M syndrome in two sisters
Author(s) -
Marik I,
Marikova O,
Kuklik M,
Zemkova D,
Kozlowski K
Publication year - 2002
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2002.00026.x
Subject(s) - medicine , microcephaly , facial dysmorphism , pediatrics , dermatology , dermatoglyphics , physical examination , dwarfing , genetics , phenotype , surgery , gene , biology
3‐M syndrome is a rare, autosomal recessive dwarfing syndrome characterized by prenatal growth restriction, facial dysmorphism and absence of both microcephaly and mental retardation. The term 3‐M syndrome originates from the common initial of the first three authors of the first report. The diagnosis is established by a combination of clinical history, clinical examination and radiographic findings. The present report shows two sisters whose facial features were slightly different from those usually reported. In addition, they presented with small nails and abnormal dermatoglyphics. The present report expands the phenotypic spectrum of 3‐M syndrome.