Atypical acrofacial dysostosis syndrome

Christianson, Arnold L.; Kruger, H.; Dini, Laurette

doi:10.1002/ajmg.1320510108

Cited by 8 publications

(8 citation statements)

References 3 publications

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“…Associated anomalies may include choanal atresia, and/ or lacrimal atresia. 44,45 Computed tomography imaging of the skull may demonstrate zygomatic arch clefts in some individuals. A major subgroup of the MFD comprises those with frequent limb defects, known as acrofacial dysostoses (AFDs).…”

Section: Syndromic Malocclusionsmentioning

confidence: 99%

Review of the Genetic Basis of Jaw Malformations

Ahmed

Taub

2016

J Pediatr Genet

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Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules. As such, numerous craniofacial syndromes specifically affect the development of the jaws. The following review discusses several genetic anomalies that specifically affect the bones of the craniofacial skeleton and lead to malocclusion.

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Section: Syndromic Malocclusionsmentioning

confidence: 99%

Review of the Genetic Basis of Jaw Malformations

Ahmed

Taub

2016

J Pediatr Genet

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“…While the occurrence of CNS anomalies in MLRD is less frequent, the mortality in cases with these anomalies is highest, at 100% (Al-Gazali et al, 1999;Lurie et al, 1995;Meinecke et al, 1992). All eight patients with CNS anomalies died within 4 months (Al-Gazali et al, 1999;Christianson et al, 1994;Cunniff et al, 1993;Lurie et al, 1995;Meinecke et al, 1992;Siebert et al, 2005;Verloes et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

Congenital microgastria‐limb reduction association: A case report and review of the literature

Shah

Rashid

Bodamer

2020

American J of Med Genetics Pt A

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We report a patient with phenotypic semblance to the congenital microgastria-limb reduction association (MLRD). Our patient presented with microgastria, bilateral upper limb anomalies, asplenia, solitary kidney, and mild micrognathia. In addition to the anomalies seen in our patient, MLRD has been associated with respiratory, cardiovascular, and central nervous system anomalies. MLRD is thought to arise from a developmental field defect during embryonic weeks five and six; however, no genetic cause has been elucidated. Along with our patient presentation, we review the literature to further our understanding of the MLRD phenotype spectrum.

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“…The recently delineated Catania form of acrofacial dysostosis [Opitz et al, 1993] was confirmed as nosologic entity by Wulfsberg et al [1996]. Other forms of acrofacial dysostosis (AFD) were delineated by Medeira and Donnai [1994], Christianson et al [1994] and Preis et al [1995]; these appear to be lethal entities. However, recently, we were privileged to study a family with a previously apparently undescribed non-lethal form of acrofacial dysostosis originating, probably by coincidence, in the same village as the family with the original Catania form of acrofacial dysostosis.…”

Section: Introductionmentioning

confidence: 97%

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

et al. 1997

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We described another previously apparently unreported form of acrofacial dysostosis (AFD) from Sicily, residing, coincidentally in the same small village as that with the recently delineated Catania AFD. In contra-distinction to the latter, the 4 patients with the Palagonia form of AFD are of normal intelligence, and instead of extensive caries have oligodontia (4), short stature (3), frizzy hair (pili torti) with aplasia cutis verticis (1), mild cutaneous syndactyly of digits 2-5 (4), attenuation of the 4th metacarpals (3/3), unilaterally cleft lip (1), and some vertebral anomalies such as a large atlas (1), mild scoliosis (1), small odontoid process, spina bifida occulta at S1 (1). Casually, this would appear to be an iceberg dominant disorder, with the proposita most severely affected. This could be an X-linked dominant, but more likely an autosomal dominant trait.

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Atypical acrofacial dysostosis syndrome

Cited by 8 publications

References 3 publications

Review of the Genetic Basis of Jaw Malformations

Review of the Genetic Basis of Jaw Malformations

Congenital microgastria‐limb reduction association: A case report and review of the literature

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

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