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At least 217 records · Page 12Linked to original sources
PubMed1999

Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.

We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed2006

Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.

Pure partial duplication or triplication of the proximal part of chromosome 14 has been reported in only 4 patients. Other individuals with a duplication or triplication of this region have additional chromosome imbalances. We present a new case with a supernumerary marker chromosome in all blood cells and in 35% of the cells an additional smaller marker chromosome. Both markers appeared to be derived from chromosome 14 (del(14)(q21.2) in all cells and del(14)(q11.2) in 35% of the cells). This results in a partial duplication of the proximal region of chromosome 14, combined with a mosaic partial triplication of a smaller segment of the same region. In this paper, we compare the clinical features of this case to those of cases from the literature. Although most of the patients from literature were unbalanced translocation carriers, their clinical features were comparable, except from renal abnormalities.

Abnormalities, Multiple↗
PubMed1986

Sacral hemangiomas and multiple congenital abnormalities.

Five infants with sacral hemangiomas and a particular constellation of congenital abnormalities are described. Three of the five infants had an imperforate anus associated with a fistula. Three of the five had renal anomalies; four had bony abnormalities of the sacrum, and three of these also had a lipomeningomyelocele. Four had skin tags, three of which were in the genital and sacral areas. Two of the five also had abnormalities of the external genitalia. This constellation of defects associated with a sacral hemangioma has not been, to our knowledge, elaborated previously.

Abnormalities, Multiple↗