Mental retardation, unusual face, and intrauterine growth retardation: A new recessive syndrome?

Pitt, David; Rogers, John G.; Danks, D. M.

doi:10.1002/ajmg.1320190213

Cited by 43 publications

(25 citation statements)

References 7 publications

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“…The mouth is distinct and wide with downturned corners and short upper lip. The whole craniofacial complex takes a characteristic look called "Greek warrior helmet" [20,21]. "Greek warrior helmet appearance" refers mainly to the broad bridge of the nose, which continues to the forehead and microcephaly with high forehead.…”

Section: Facial and Dental Featuresmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

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Section: Facial and Dental Featuresmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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“…Pitt-Rogers-Danks syndrome (PRDS) also is a multiple congenital abnormality syndrome [Pitt et al, 1984]. A t(4;8) was detected in the father of the sisters originally described by Pitt et al and the derivative chromosome 4 was identified in the sisters using a probe to locus D4S96 [Pitt et al, 1984;Clemens et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

Wright

Clemens

Quarrell³

et al. 1998

Am. J. Med. Genet.

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Wolf-Hirschhorn syndrome (WHS), a multiple congenital malformation syndrome, and Pitt-Rogers-Danks syndrome (PRDS), a rare condition with similar anomalies, were previously thought to be clinically distinct conditions. While WHS has long been associated with deletions near the terminus of 4p, several recent studies have shown PRDS is associated with deletions in 4p16.3. In this paper we evaluate three patients, two described as PRDS and one diagnosed as WHS. We demonstrate that the molecular defects associated with the two syndromes show a considerable amount of overlap. We conclude that both of these conditions result from the absence of similar, if not identical, genetic segments and propose that the clinical differences observed between these two syndromes are likely the result of allelic variation in the remaining homologue.

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“…Since the sibs initially described by Pitt et al (1984) have retrospectively been found to carry an unbalanced karyotype due to a t(4;8)(p16.3;p23.1)pat (Clemens et al, 1996), it has to be discussed whether some of the features, at least in these patients, that are not consistent with WHS might be explained by the additional partial trisomy 8p.…”

Section: Discussionmentioning

confidence: 99%

“…The main features of Pitt-Rogers-Danks syndrome (PRDS, OMIM 262350) are prenatal and postnatal growth retardation, microcephaly, seizures, and developmental delay. The characteristic facial appearance includes a wide mouth, short upper lip with flat philtrum, beaked nose, prominent eyes, and maxillary hypoplasia (Pitt et al, 1984).…”

confidence: 99%

Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome

Dufke

Seidel²,

Schöning³

et al. 2000

Cytogenet Genome Res

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Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS.

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Mental retardation, unusual face, and intrauterine growth retardation: A new recessive syndrome?

Abstract: We describe two mentally retarded sisters with intrauterine growth retardation and subsequent dwarfism and an unusual and characteristic face together with two other unrelated patients with similar manifestations. These four patients may represent a new autosomal recessive syndrome.

Cited by 43 publications

References 7 publications

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome

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