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Case Reports
. 2010 Aug;152A(8):1915-8.
doi: 10.1002/ajmg.a.33488.

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies

Cathy A Stevens  1 , Ralph S Lachman
Affiliations
Case Reports

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies

Cathy A Stevens et al. Am J Med Genet A. 2010 Aug.

Abstract

We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion.

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Figures

Fig. 1
Fig. 1
Sib1. A: Facial features including hypertelorism, short upturned nose, low set ears. B: Short limbs and small genitalia. C: Flexion contractures and flared toes. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 1
Fig. 1
Sib1. A: Facial features including hypertelorism, short upturned nose, low set ears. B: Short limbs and small genitalia. C: Flexion contractures and flared toes. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 1
Fig. 1
Sib1. A: Facial features including hypertelorism, short upturned nose, low set ears. B: Short limbs and small genitalia. C: Flexion contractures and flared toes. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 2
Fig. 2
Radiographs of sib 1. A: Severe mesomelia, milder rhizomelia, 11 pairs of ribs, butterfly vertebra at T7, laterally displaced/ hooked clavicles, rounded ilia, dumbbell femurs, absent talus and calcaneus ossification. B: short first metacarpal and phalanges.
Fig. 2
Fig. 2
Radiographs of sib 1. A: Severe mesomelia, milder rhizomelia, 11 pairs of ribs, butterfly vertebra at T7, laterally displaced/ hooked clavicles, rounded ilia, dumbbell femurs, absent talus and calcaneus ossification. B: short first metacarpal and phalanges.
Fig. 3
Fig. 3
Sib 2. A: Facial features including hypertelorism and low set ears. B: Hypoplastic genitalia. C: Ulnar deviation of wrist and unusual finger positioning. D: Long first toe. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 3
Fig. 3
Sib 2. A: Facial features including hypertelorism and low set ears. B: Hypoplastic genitalia. C: Ulnar deviation of wrist and unusual finger positioning. D: Long first toe. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 3
Fig. 3
Sib 2. A: Facial features including hypertelorism and low set ears. B: Hypoplastic genitalia. C: Ulnar deviation of wrist and unusual finger positioning. D: Long first toe. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 3
Fig. 3
Sib 2. A: Facial features including hypertelorism and low set ears. B: Hypoplastic genitalia. C: Ulnar deviation of wrist and unusual finger positioning. D: Long first toe. [Color figure and be viewed in the online issue, which is available at www.interscience.wiley.com]
Fig. 4
Fig. 4
Radiographs of sib 2. A: 11 pairs of ribs, laterally hooked clavicles. B: Rounded ilia, dumbbell femurs, mesomelia, rhizomelia. C: Mesomelia, rhizomelia, short first metacarpal and infolded thumb. D: Absent/delayed talus and calcaneus ossification.
Fig. 4
Fig. 4
Radiographs of sib 2. A: 11 pairs of ribs, laterally hooked clavicles. B: Rounded ilia, dumbbell femurs, mesomelia, rhizomelia. C: Mesomelia, rhizomelia, short first metacarpal and infolded thumb. D: Absent/delayed talus and calcaneus ossification.
Fig. 4
Fig. 4
Radiographs of sib 2. A: 11 pairs of ribs, laterally hooked clavicles. B: Rounded ilia, dumbbell femurs, mesomelia, rhizomelia. C: Mesomelia, rhizomelia, short first metacarpal and infolded thumb. D: Absent/delayed talus and calcaneus ossification.
Fig. 4
Fig. 4
Radiographs of sib 2. A: 11 pairs of ribs, laterally hooked clavicles. B: Rounded ilia, dumbbell femurs, mesomelia, rhizomelia. C: Mesomelia, rhizomelia, short first metacarpal and infolded thumb. D: Absent/delayed talus and calcaneus ossification.
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