Two sibs with Malpuech syndrome

Crisponi, Guido; Marras, Andrea Raffaele; Corrias, A

doi:10.1002/(sici)1096-8628(19990917)86:3<294::aid-ajmg20>3.0.co;2-2

Cited by 21 publications

(17 citation statements)

References 5 publications

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“…This combination of symptoms is not found in Malpuech or Michels syndrome, although in some patients single symptoms have been found to be present; -umbilical depressions can be present in all entities, but in the patients reported by Carnevale et al [1989], Mingarelli et al [1996], and Guion-Almeida and Rodini [1995], a diastasis recti is also almost invariably present. The umbilical abnormalities are variable and by far the most expressed in the patients reported by Carnevale et al [1989]; -caudal appendages have been found in half of the patients with Malpuech syndrome, but not in any of the other entities; -abnormal elbow mobility, with or without detectable radio-ulnar synostosis, has been found in all entities except for Malpuech syndrome; [Malpuech et al, 1983;Chinen and Naritomi, 1995;Guion-Almeida, 1995;Crisponi et al, 1999;Kerstjens-Frederikse et al, 2005]. b [Michels et al, 1978;Cunniff and Jones, 1990;De La Paz et al, 1991;Titomanlio et al, 2005].…”

Section: Discussionmentioning

confidence: 93%

“…For Malpuech syndrome, data from all earlier reported patients were used [Malpuech et al, 1983;Chinen and Naritomi, 1995;Guion-Almeida, 1995;Crisponi et al, 1999;Kerstjens-Frederikse et al, 2005], although it seems well possible that Patient 2 reported by Guion-Almeida has in fact Wolf-Hirschhorn or Pitt-Rogers-Danks syndrome [Selicorni and Faravelli, 2000]. The single patient reported in an abstract [Hall, 2004] could not be used due to lack of sufficiently detailed data.…”

Section: Discussionmentioning

confidence: 99%

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Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?

Kaissi

Klaushofer

Safi

et al. 2007

American J of Med Genetics Pt A

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A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion-Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?

Kaissi

Klaushofer

Safi

et al. 2007

American J of Med Genetics Pt A

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“…On pictures, mild blepharophimosis may be present, although it is not mentioned in the reports. Crisponi et al [1999] reported further sibs with convincing facial appearance and normal intelligence. Review of the literature on Malpuech is difficult, as several patients appear to have a phenotype only loosely related to the original report, making tabular analysis of signs misleading.…”

Section: Discussionmentioning

confidence: 99%

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?

Titomanlio

Bennaceur

Bremond-Gignac

et al. 2005

American J of Med Genetics Pt A

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We report on a 3‐year‐old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra‐umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge‐shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as “3MC syndrome” (Malpuech‐Michels‐Mingarelli‐Carnevale syndrome). © 2005 Wiley‐Liss, Inc.

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“…Malpuech syndrome is a rare multiple congenital anomaly syndrome. The incidence is unknown, but at least 12 patients worldwide are reported to have this condition (2). There is often difficulty regarding a definite clinical diagnosis.…”

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confidence: 99%

“…A genetic locus has not been determined, but abnormalities in the PAX2gene, the ROR2 gene, and the P63 gene are believed to be involved in the generation of this syndrome (3). The facial features of this disorder are typically cleft lip and palate, hypertelorism, ptosis and malar hypoplasia, micrognathia and prominent dentition (2). Affected children may also present with omphalocele, umbilical hernia, renal aplasia, undescended testis, micropenis, caudal appendage and a sacral dimple suggestive of spina bifida occulta (2).…”

mentioning

confidence: 99%