Acrocephalopolysyndactyly type IV: A new genetic syndrome in 3 sibs *

  title={Acrocephalopolysyndactyly type IV: A new genetic syndrome in 3 sibs *},
  author={Richard M. Goodman and Melmuth H. Sternberg and Y Shem-Tov and Mariassa Bat‐Miriam Katznelson and Marjorie Hertz and Yaacov Rotem},
  journal={Clinical Genetics},
In 1909, Carpenter described 3 sibs with multiple malformations which included the key features of acrocephalopolysyndactyly. Noack, in 1959, reported on a father and daughter also exhibiting acrocephalopolysyndactyly. Although affected members in these two families shared certain physical features, they differed in others and also in their mode of genetic transmission. According to McKusick (1975), it is now preferable to refer to the autosomal dominant type as acrocephalopolysyndactyly Type I… 
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.
It is shown that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder.
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes.
It is suggested that polysyndactyly of feet is not an absolute requisite for the diagnosis of Carpenter syndrome, and this allows the inclusion of Summitt and Goodman syndromes within the clinical spectrum of this disorder.
A new craniosynostosis syndrome
A patient with bilateral multiple craniosynostosis involving the coronal and lambdoid sutures, high myopia, obesity, vertebral anomalies, minor acral anomalies and normal intelligence is reported on, suggesting a previously unrecognized syndrome resembling Carpenter syndrome.
Carpenter syndrome: natural history and clinical spectrum.
Three sibs with Carpenter syndrome were evaluated, permitting further clinical, orthopedic, radiographic, and psychometric delineation of this disorder, allowing differentiation of Carpenter syndrome from the other autosomal-recessive acrocephalopolysyndactyly syndromes.
Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence.
A 6-year-old girl with Carpenter's syndrome is reported who, in spite of a considerably distorted and small calvarium at birth, has normal mental development. Cranio-facial surgery was carried out in
A case of Carpenter syndrome diagnosed in a 20‐week‐old fetus with postmortem examination
The central nervous system anomalies in this 23‐week‐old fetus merit emphasis, since these anomalies in such a young fetus may explain Carpenter syndrome cases, which do not improve in spite of early surgical intervention.
Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome?
Two patients are described with a syndrome which resembles Apert syndrome with polydactyly of hands and feet. This association is apparently rare and we think that this may represent a distinct
GOODMAN syndrome, or Tel-Hashomer camptodactyly, comprises digital contractures, a distinctive facies, muscular hypoplasia and multiple skeletal abnormalities. Inheritance is autosomal recessive.


Carpenter syndrome--acrocephalopolysyndactyly type II.
Syndrome dominant associant polysyndactylie , pouces en spatule , anomalies facials et retard mental ( une forme particulikre de l ’ acrocephalo - poly - syndactylie de type Noack )
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Carpenter syndromeacrocephalopolysyndactyly Type 11
  • Birth Defects: Original Article Series
  • 1974
Carpenter syndrome acrocephalopolysyndactyly Type 11. Birth Defects: Original Article
  • 1974
Mendelian lnheritance in Man
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Associated deformities of the head and hands
  • Birth Defects: Original Article Series,
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Ein Beitrag zum Krankheitsbild der Akrozephalosyndaktylie (Apert)
  • Arch. Kinderheilk
  • 1959