The 4P-syndrome. Case description and literature review.
The microdeletion 4p16 has been found in two rare syndromes. Until now they were considered as two different syndromes: the Wolf-Hirschhorn syndrome (WHS) and the Pitt-Rogers-Danks (PRDS) syndrome characterized by a growth retardation before and after birth, microcrania, seizures, characteristic face with thin mouth, maxillary hypoplasia, short and large philtrum, characteristic nose and mental retardation. A case with 4p-16 microdeletion with phenotype characteristics similar to PRDS is reported. The patients described as PRDS are sometimes less seriously affected than patients with WHS. In fact, cases of death are not indicated in the first year of life, internal malformations are less frequent and the face lacks the typical Greek warrior helmet Recent studies have shown that WSS and PRDS are due to the absence of similar if not identical genetic segments and the clinical differences observed could be the outcome of an allele variation on the remaining homologous part.
Moretti
P
P
Unità Materno-Infantile, Ospedale Civile G. Mazzini, Teramo, Università degli Studi, L Aquila, Italy.
Ferrari
M
M
Di Battista
S
S
Di Battista
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D013577:Syndrome