PMID- 15108211
OWN - NLM
STAT- MEDLINE
DCOM- 20050204
LR  - 20220317
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 127A
IP  - 2
DP  - 2004 Jun 1
TI  - Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p 
      terminal deletion.
PG  - 197-200
AB  - Wolf-Hirschhorn syndrome (WHS) is caused by a variably-sized deletion of 
      chromosome 4 involving band 4p16 whose typical craniofacial features are "Greek 
      warrior helmet appearance" of the nose, microcephaly, and prominent glabella. 
      Almost all patients show mental retardation and pre- and post-natal growth delay. 
      Patient was born at term, after a pregnancy characterized by intra-uterine growth 
      retardation (IUGR). Delivery was uneventful. Developmental delay was evident 
      since the first months of life. At 2 years, he developed generalized tonic-clonic 
      seizures. Because of short stature, low growth velocity and delayed bone age, at 
      4 years he underwent growth hormone (GH) evaluation. Peak GH after two 
      provocative tests revealed a partial GH deficiency. Clinical observation at 7 
      years disclosed a distinctive facial appearance, with microcephaly, prominent 
      eyes, and beaked nose. Brain MRI showed left temporal mesial sclerosis. GTG 
      banded karyotype was normal. Because of mental retardation, subtelomeric 
      fluorescence in situ hybridization (FISH) analysis was performed, disclosing a 
      relatively large deletion involving 4p16.2 --> pter (about 4.5 Mb), in the 
      proband, not present in the parents. The smallest deletion detected in a WHS 
      patient thus far includes two candidate genes, WHSC1 and WHSC2. Interestingly, 
      that patient did not show shortness of stature, and that could be due to the 
      haploinsufficiency of other genes localized in the flanking regions. Contribution 
      of GH alterations and possible GH therapy should be further considered in WHS 
      patients.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Titomanlio, L
AU  - Titomanlio L
AD  - Department of Pediatrics, Child Neuropsychiatry Unit, Federico II University, Via 
      S. Pansini 5, 80131 Naples, Italy.
FAU - Romano, A
AU  - Romano A
FAU - Conti, A
AU  - Conti A
FAU - Genesio, R
AU  - Genesio R
FAU - Salerno, M
AU  - Salerno M
FAU - De Brasi, D
AU  - De Brasi D
FAU - Nitsch, L
AU  - Nitsch L
FAU - Del Giudice, E
AU  - Del Giudice E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 9002-72-6 (Growth Hormone)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Brain/pathology
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Craniofacial Abnormalities/*genetics
MH  - Growth Hormone/*deficiency/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Microcephaly/*genetics
EDAT- 2004/04/27 05:00
MHDA- 2005/02/05 09:00
CRDT- 2004/04/27 05:00
PHST- 2004/04/27 05:00 [pubmed]
PHST- 2005/02/05 09:00 [medline]
PHST- 2004/04/27 05:00 [entrez]
AID - 10.1002/ajmg.a.20667 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Jun 1;127A(2):197-200. doi: 10.1002/ajmg.a.20667.