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2002-05-30-12 Answer to the case of the week #73 © Vla?in

Answer to Case #73

May 17-30, 2002

Pavel Vla?in, MD, Pavel Eli??, MD*

Centrum prenat?lni diagnostiky, Brno, and *FN Hradec Kr?lové, Czech Republic

This 27-year-old G2 P1 was sent for ultrasound screening  at 17 weeks. The biochemical screening was negative

The following are images from the first scan. They demonstrate brachycephaly and moderately large 3rd ventricle

as well as nuchal edema:

A genetic amniocentesis was performed that revealed a normal karyotype 46 XY.

A second ultrasound scan was performed at 21 week. Hypotelorism and a depressed nasal bridge are seen.

The most important findings is at the level of the epiphysis of the humerus

and of the femur. In both bones small calcifications are seen.

The major finding in this case is thus the presence of small calcifications in the epiphysis. There are numerous conditions associated with epiphyseal calcifications. This is the list in OMIM:

271665 Spondylometaepiphyseal dysplasia, short limb-hand type
*120140 Collagen, type ii, alpha-1; col2a1
#215100 Rhizomelic chondrodysplasia punctata, type 1; rcdp1
215140 Chondrodystrophy, hydropic and prenatally lethal type
#221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; plosl
*118650 Chondrodysplasia punctata, autosomal dominant
300800 Albright hereditary osteodystrophy; aho
#215045 Chondrodysplasia, Blomstrand type
#222600 Diastrophic dysplasia
#241500 Hypophosphatasia, infantile
#313400 Spondyloepiphyseal dysplasia tarda, x-linked
601668 Spondyloepimetaphyseal dysplasia with abnormal dentition

In this case the fetus had Chondrodysplasia punctata (see also Chondrodysplasia punctata)

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