Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral–facial–digital syndrome type IV?

Adès, Lesley C.; Clapton, Wayne; Morphett, Arthur; Morris, Lloyd; Haan, Eric

doi:10.1002/ajmg.1320490211

Cited by 32 publications

(14 citation statements)

References 19 publications

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“…For example, cardiac malformations have been described in several types of OFD syndrome [16,19,28]. Ades et al [29] reported a fetus with severe malformations of the kidneys, heart, hepatic ducts, lung and ambiguous genitalia. Cases of OFD with multiple skeletal and visceral involvement were also described [5,17,20,27,30–34].…”

Section: Discussionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

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The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.

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Section: Discussionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

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“…Given this complex group of conditions, what is the purpose of attempts at classification? Although many of these conditions are autosomal recessive, such as classic OFDS IV and the OFDS described by Chitayat et al [1992] and present in our patients 4 and 5, OFDS VIII is X-linked recessive, Pallister-Hall syndrome is likely autosomal dominant [Donnai, 1993], and the ''lethal'' OFDS in Table III has an unknown mode of inheritance (although parents were consanguineous in the report of Ades et al, 1994). Thus an accurate diagnosis is essential for precise appraisal of recurrence risks.…”

Section: Discussionmentioning

confidence: 89%

“…Additional patients stated to have Mohr-Majewski ''compound,'' or OFDS IV, include those described by Meinecke and Hayek [1990], Gillerot and Koulischer [1988], Ades et al [1994], and Silengo et al [1987]. The patients of the first three reports had tibial defects; those of the fourth did not.…”

Section: Discussionmentioning

confidence: 99%

Six patients with oral-facial-digital syndrome IV: The case for heterogeneity

Toriello

Carey

Suslak³

et al. 1997

Am. J. Med. Genet.

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The oral-facial-digital syndromes (OFDS) have in common minor facial and oral anomalies (including tongue lobulation and/ or hamartomas, accessory frenula, and alveolar anomalies) and variable digital defects such as polydactyly. The classification based on the presence of additional findings [Toriello, 1988, 1993] is not perfect, as many reported examples of a particular OFDS have some other condition. Here we describe six children, all diagnosed as having OFDS IV (OFDS with tibial defects), whose manifestations illustrate the apparent genetic heterogeneity.

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“…This patient was diagnosed prenatally by sonography as possible OFDS IV. Ades et al [15] reported on a 27-week-old fetus with possible OFDS IV with ambiguous genitalia. Yildirim et al [ Excision of the extra digits and reconstruction of the syndactyly.…”

Section: Discussionmentioning

confidence: 98%

Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect

Wang

Lian

et al. 2008

Journal of Pediatric Orthopaedics B

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Orofaciodigital syndromes (OFDS) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a female patient with ocular hypertelorism, broad nasal root, midline cleft of the upper lip, lobulated tongue, polydactyly of both hands, polysyndactyly of the right big toe and fifth toe, and polydactyly of the left foot. These clinical manifestations resembled OFDS type I. Other associated features included congenital heart defect, bilateral hydronephrosis, and vaginal atresia. To our knowledge, this is the first reported case of OFDS with vaginal atresia.

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Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral–facial–digital syndrome type IV?

Cited by 32 publications

References 19 publications

The Many Faces of Oral-Facial-Digital Syndrome

The Many Faces of Oral-Facial-Digital Syndrome

Six patients with oral-facial-digital syndrome IV: The case for heterogeneity

Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect

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