Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?
We report on two sisters in a family with a hitherto undescribed MCA/MR condition characterized by growth retardation, severe microcephaly, a peculiar facies, congenital contractures of the interphalangeal and patellar joints, atopic dermatitis, and growth and developmental delay. The disorder in the family we describe is similar to but clearly distinguished from tricho-rhino-phalangeal syndromes or Bavinck syndrome. We propose that the condition in the sisters represents a new autosomal recessive MCA/MR syndrome.
Kondoh
T
T
Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan. kontatsu@net.nagasaki-u.ac.jp
Yamamoto
T
T
Kono
Y
Y
Matsumoto
T
T
Sugawara
H
H
Matsumoto
N
N
Moriuchi
H
H
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D003286:Contracture / Q000473:pathology*; D003876:Dermatitis, Atopic / Q000473:pathology; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007564:Japan; D008831:Microcephaly / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome