Ellis Van Creveld Syndrome

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Carpenter Syndrome Pictures
Figure 1.68. This infant with Apert's syndrome (acrocephalosyndactyly) shows symmetric syndactyly of bodi hands. In Apert's syndrome, total syndactyly may involve the full length of the hands or feet. They appear cupped and mitten-like and may have a single undulating band-shaped nail.

Figure 1.69. In Carpenter's syndrome (acrocephalopolysyndactyly), polysyndactyly is a prominent feature. Note the webbing between the digits; the extra digit can be noted behind the fifth digit.

Figure 1.70. Polysyndactyly (seven digits) widi brachydactyly and hypoplastic nails in an infant with Ellis-van Creveld syndrome.

Figure 1.70. Polysyndactyly (seven digits) widi brachydactyly and hypoplastic nails in an infant with Ellis-van Creveld syndrome.

Carpenter Syndrome Pictures
Figure 1.71. There was a family history of broad thumbs and toes in this otherwise normal infant who exhibits an overgrowth anomaly of the thumbs and big toes. Syndromes such as Rubenstein-Taybi and Larsen's syndrome should be excluded in infants with broad thumbs and toes.
Rubinstein Taybi Syndrome Thumbs
Figure 1.72. A broad spatulate thumb in an infant with Larsen's syndrome.
Big Thumb Syndrome

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Holt Oram Syndrome

Figure 1.73. A dorsal (left) and ventral (right) view of digitaliza-tion of the right thumb in an infant with imperforate anus and microphthalmia. Karyotype was normal.

If there are three phalanges comprising the thumb (triphalangeal thumb), conditions such as Fanconi's pancytopenia syndrome and Holt-Oram syndrome should be considered in die differential diagnosis. A triphalangeal thumb lies in die same plane as die fingers.

Figure 1.73. A dorsal (left) and ventral (right) view of digitaliza-tion of the right thumb in an infant with imperforate anus and microphthalmia. Karyotype was normal.

If there are three phalanges comprising the thumb (triphalangeal thumb), conditions such as Fanconi's pancytopenia syndrome and Holt-Oram syndrome should be considered in die differential diagnosis. A triphalangeal thumb lies in die same plane as die fingers.

Digitalization Thumbs

Figure 1.74. A palmar view of digitalization of the right thumb in another infant. Note die extra creases in the thumb. This infant also had bifid big toes with Polydactyly.

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Jrir

Figure 1.75. The "hitchhiker" thumb is a proximally placed thumb caused by hypoplasia of the first metacarpal. The thumb is retroflexed with hypoplasia of the thenar eminence. This type of thumb is typical in diastrophic dwarfism.

Figure 1.76. Pouce flottant ("floating" thumb) of the right hand. In this condition there is an absent or hypoplastic first metacarpal.

Figure 1.77. Another example of pouce flottant. There is an absence or maldevelopment of the first metacarpal with phalanges.

Figure 1.78. An early insult to the limb bud in the 5th to 6th embry-ologic week may result in a duplication of parts, especially of the hands and feet, such as this bifid thumb.

Bifid Finger

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Responses

  • deborah warren
    What does the karyotype of ellis van creveld look like?
    7 years ago
  • celendine banks
    What is larsen's syndrome?
    6 years ago
  • Hanna-Mari
    Are there scholorships for students with floating thumb syndrome?
    5 years ago

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