Of the 15 patients, 5 (33.3%) had heart lesions; 7 (47%) had orofacial clefts; 13 (87%) had a seizure disorder that tended to disappear with age; and all 15 had severe/profound developmental retardation.
One Italian patient had sensorineural deafness and 1 Utah patient had a right split-hand defect.
A comparison of the survival curves for de novo deletions and translocations did not show a statistically significant difference.
11584045] [Full Text]" pmid="11584045"Shannon et al. (2001) concluded that the mortality rate for WHS was lower than previously reported and that there was a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases. (2008) found that most patients had cessation of seizures in childhood.
9489803] [Full Text]" pmid="9489803"Battaglia and Carey (1998) also argued that the Pitt-Rogers-Danks syndrome is essentially the same as Wolf-Hirschhorn syndrome, i.e., a 4p deletion syndrome. (1999) further defended the conclusion that WHS and PRDS represent clinical variation of a single disorder.Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).The Wolf-Hirschhorn syndrome is characterized by severe growth retardation and mental defect, microcephaly, 'Greek helmet' facies, and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects) (5895684]" pmid="5895684"Pitt et al.8957525] [Full Text]" pmid="8957525"Lindeman-Kusse et al. (1996) also found microdeletions of 4p16.3 in 4 patients previously diagnosed as having Pitt syndrome.Moreover, 2 sisters originally reported by 6542309] [Full Text]" pmid="6542309"Wittwer et al.
3706410] [Full Text]" pmid="3706410"Lizcano-Gil et al. (1995) described a similar case of what was then called the 'Pitt-Rogers-Danks syndrome (PRDS)' or 'Pitt syndrome,' with the additional feature of optic atrophy.The father was 37 years old, prompting 7762580] [Full Text]" pmid="7762580"1996) described a patient thought to have Pitt syndrome in whom fluorescence in situ hybridization analysis using the D4S96 probe specific for the WHS region at 4p16.3 revealed microdeletion in 20 of 20 metaphase cells tested.They analyzed the patients at the molecular level, using a series of cosmids across a 4.5-Mb region of 4p16.3.They found that the molecular defects associated with the 2 syndromes show considerable overlap.As a result of their study, 9222965] [Full Text]" pmid="9222965"Wright et al.
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(1998) came to a similar conclusion from analysis of a patient with WHS and 2 patients with PRDS.
A seizure had not occurred in 3 years in 18 (66%) patients, and the mean age of the last seizure in those who were seizure-free was 11.3 years.
In addition, many parents commented that seizures were triggered by fever.
(1984) reported a seemingly distinctive syndrome: intrauterine growth retardation with subsequent dwarfism, and unusual, characteristic facies.
Short upper lip, prominent and slanting eyes, telecanthus, wide mouth, and microcephaly were described.