Another “new” form, the Palagonia type of acrofacial dysostosis in Sicilian family

Sorge, Giovanni; Pavone, Lorenzo; Polizzi, Agata; Mauceri, Laura; Leonardi, Rosalia; Tripi, Teresa Roberta; Opitz, John M.

doi:10.1002/(sici)1096-8628(19970414)69:4<388::aid-ajmg10>3.0.co;2-j

Cited by 10 publications

(4 citation statements)

References 7 publications

(7 reference statements)

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“…170,171 PT has been reported with different EDs. 153,154,[172][173][174][175][176][177][178][179][180][181][182][183][184] (Table III).…”

Section: Trichorrhexis Invaginatamentioning

confidence: 62%

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The genetics of hair shaft disorders

Cheng

Bayliss

2008

Journal of the American Academy of Dermatology

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“…170,171 PT has been reported with different EDs. 153,154,[172][173][174][175][176][177][178][179][180][181][182][183][184] (Table III).…”

Section: Trichorrhexis Invaginatamentioning

confidence: 62%

“…Ectodermal dysplasias/defects reported with pili tortiWidely spaced teeth and enamel hypoplasia153,172 Acrofacial dysostosis of the palagonia type173,174 …”

mentioning

confidence: 99%

The genetics of hair shaft disorders

Cheng

Bayliss

2008

Journal of the American Academy of Dermatology

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“…There are numerous reports of individuals and families with acrofacial dysostoses who have clinical features distinct from individuals with Nager or Miller syndromes [Reynolds et al, 1986; Opitz et al, 1989; Rodrigues et al, 1990; Arens et al, 1991; Opitz et al, 1993; Richieri‐Costa et al, 1993; Sorge et al, 1997; Walter‐Nicolet et al, 1999; Tabith and Bento‐Goncalves, 2003; Kennedy and Teebi, 2004]. Careful review of the facial features in this heterogeneous group of disorders, however, does not identify additional individual(s)/family(s) with the combination of malformations noted in the individuals with OOFD.…”

Section: Discussionmentioning

confidence: 99%

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

et al. 2006

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We describe a novel autosomal recessive malformation syndrome in four related individuals from a geographically isolated Native Alaskan community, who have facial defects similar to those of individuals with Treacher Collins (TCS) and Miller syndrome. Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. Variable extracranial findings include atrioseptal defect, renal dysplasia, and imperforate anus, however, no limb defects have been observed. Cranial imaging studies demonstrate relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings.

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“…This type is characterized by oligodontia, frizzy hair, and short stature. The only article on this AFD was published by Sorge et al . They described a Sicilian family with this most likely autosomal dominant condition.…”

Section: Acrofacial Dysostosesmentioning

confidence: 99%

Human facial dysostoses

Wieczorek

2013

Clinical Genetics

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The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date.

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Another “new” form, the Palagonia type of acrofacial dysostosis in Sicilian family

Cited by 10 publications

References 7 publications

The genetics of hair shaft disorders

The genetics of hair shaft disorders

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

Human facial dysostoses

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