TY - JOUR
T1 - Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
AU - Oudesluijs, Grétel
AU - Simon, Marleen E. H.
AU - Burggraaf, Rianne H. J.
AU - Waterham, Hans R.
AU - Hennekam, Raoul C. M.
PY - 2012
Y1 - 2012
N2 - We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead, mildly underdeveloped midface, hypertelorism, depressed nasal bridge, short and upturned nose, large mouth, retrognathia, and large and malformed ears. Work-up included cytogenetic studies of lymphocytes and skin fibroblasts, subtelomere Multiplex Ligation-dependent Probe Amplification (MLPA), whole-genome oligo-array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated. Results of metabolic studies for sterol and peroxisomal abnormalities in fibroblasts were normal. Additional electronic microscopy studies in skin fibroblasts did not show evidence for storage in fibroblasts or lysosomal changes. Nosologic considerations allowed exclusion of SchinzelGiedion and Urioste syndrome. This condition seems not to have been described before; a segregating Mendelian mutation is assumed. (C) 2011 Wiley Periodicals, Inc
AB - We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead, mildly underdeveloped midface, hypertelorism, depressed nasal bridge, short and upturned nose, large mouth, retrognathia, and large and malformed ears. Work-up included cytogenetic studies of lymphocytes and skin fibroblasts, subtelomere Multiplex Ligation-dependent Probe Amplification (MLPA), whole-genome oligo-array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated. Results of metabolic studies for sterol and peroxisomal abnormalities in fibroblasts were normal. Additional electronic microscopy studies in skin fibroblasts did not show evidence for storage in fibroblasts or lysosomal changes. Nosologic considerations allowed exclusion of SchinzelGiedion and Urioste syndrome. This condition seems not to have been described before; a segregating Mendelian mutation is assumed. (C) 2011 Wiley Periodicals, Inc
U2 - https://doi.org/10.1002/ajmg.a.34396
DO - https://doi.org/10.1002/ajmg.a.34396
M3 - Article
C2 - 22140078
SN - 1552-4825
VL - 158A
SP - 292
EP - 297
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 2
ER -