malformation syndrome

He described a number of malformation syndromes, several of which bear his name today.

He was underweight and had a malformation syndrome.

A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.

Cryptorchidism occurs at a much higher rate in a large number of congenital malformation syndromes.

By the late 1970s, the infant death rate from several major congenital malformation syndromes had been reduced to near zero.

Those with bilateral disease often have other severe deformities or polysystemic malformation syndromes.

Mutations in the DLX5 gene have been shown to be involved in the hand and foot malformation syndrome.

Finally the pieces of the puzzle were put together and they were both diagnosed with Dubowitz syndrome, which is a malformation syndrome.

TP63 mutations underlie several malformation syndromes that include cleft lip and/or palate as a hallmark feature.

Diagnosis, especially of multiple malformation syndromes, syndromes associated with dysmorphic features and craniofacial disorders.

It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, or DHCR7.

This application consists of three separate databases of human and mouse malformation syndromes together with a database of mouse/human syntenic regions.

He was soon diagnosed with a Grade 3 level of Cervical Vertebral Malformation Syndrome, a spinal disorder commonly referred to by horsemen as the "wobbles."

CFND is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1).

This is a congenital malformation syndrome of hypo- or aplasia of the caudal vertebra with developmental defects of the corresponding segment of the spinal cord.

Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4.

The authors stated that the finding of a scalp defect in Fryns syndrome confirms that it is a true malformation syndrome with major involvement of the midline structures.

Cenani-Lenz syndactylism, also known as Cenani-Lenz syndrome or Cenani-syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.

Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities.

Where the only description is Peroxisomal Biogenesis Disorder and no further information is available assign the code Q87.8 - Other Specified Congenital Malformation Syndromes NEC.

A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).

Children were referred for MCU for a number of reasons - urinary tract infections, follow-up of reflux, dilation of pelvicaliceal system or megaureter on ultrasound, malformation syndrome and enuresis.

Somatic mosaic mutations in PIK3CA have been implicated in several overgrowth conditions: CLOVES syndrome, macrocephaly-capillary malformation syndrome, hemimegalencephaly and overgrowth with fibroadipose hyperplasia.