TY - JOUR
T1 - Digital anomalies, microcephaly, and normal intelligence
T2 - New syndrome or Feingold syndrome?
AU - Kawame, Hiroshi
AU - Pagon, Roberta A.
AU - Hudgins, Louanne
PY - 1997
Y1 - 1997
N2 - We present four patients-two boys and their mother and an unrelated girl-with microcephaly, normal intelligence, and digital abnormalities. The hand abnormalities are characterized by brachydactyly with radial clinodactyly of the fourth and fifth fingers, ulnar clinodactyly of the second fingers, and an increased space between the second and third fingers associated with an abnormal palmar crease that extends to the ulnar border. The foot abnormalities include short toes with syndactyly of the fourth and fifth toes. The mother has normal intelligence, and her sons and the unrelated girl have normal development. Although similar digital abnormalities, microcephaly, and normal intelligence were described by Feingold in patients with gastrointestinal atresia, we think that our patients' findings represent a different condition. The most likely mode of inheritance is autosomal dominant. The clinical recognition of this syndrome will allow for appropriate genetic counseling as well as provision of information on natural history, i.e., normal intelligence.
AB - We present four patients-two boys and their mother and an unrelated girl-with microcephaly, normal intelligence, and digital abnormalities. The hand abnormalities are characterized by brachydactyly with radial clinodactyly of the fourth and fifth fingers, ulnar clinodactyly of the second fingers, and an increased space between the second and third fingers associated with an abnormal palmar crease that extends to the ulnar border. The foot abnormalities include short toes with syndactyly of the fourth and fifth toes. The mother has normal intelligence, and her sons and the unrelated girl have normal development. Although similar digital abnormalities, microcephaly, and normal intelligence were described by Feingold in patients with gastrointestinal atresia, we think that our patients' findings represent a different condition. The most likely mode of inheritance is autosomal dominant. The clinical recognition of this syndrome will allow for appropriate genetic counseling as well as provision of information on natural history, i.e., normal intelligence.
KW - brachydactyly
KW - digital abnormalities
KW - microcephaly
KW - syndactyly
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U2 - 10.1002/(SICI)1096-8628(19970331)69:3<240::AID-AJMG6>3.0.CO;2-P
DO - 10.1002/(SICI)1096-8628(19970331)69:3<240::AID-AJMG6>3.0.CO;2-P
M3 - Article
C2 - 9096751
AN - SCOPUS:0030959498
SN - 1552-4825
VL - 69
SP - 240
EP - 244
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -