Ear anomalies, clefting and limb reduction defects

Ia, Glass; Walford-Moore, J; Chapman, Simon; Pa, Farndon

doi:10.1097/00019605-199404000-00011

Cited by 2 publications

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“…The vast majority of these cases have, in addition to HRS, MCA including skeletal anomalies. The described skeletal anomalies can be grouped into four main categories of: (i) craniosynostosis [Allain et al, 1976;Ives and Houston, 1980;Barone et al, 1993;Samson and Gardner, 1996;Shotelersuk et al, 2002], (ii) symphalangism [Park et al, 1972;Schinzel, 1980;Richieri-Costa and Pagnan, 1986;Schumacher et al, 1988;Sahoo et al, 1996], (iii) limb reduction, [Glass et al, 1994;Marles et al, 2003], and (iv) other skeletal defects [Keutel et al, 1970;Hughes et al, 1982;Van Gelderen, 1982;Alsing and Christensen, 1988;Chrzanowska et al, 1989;Faivre et al, 2001]. None of these cases would fit the findings in our patients.…”

Section: Discussionmentioning

confidence: 99%

“…Glass et al [1994] Absent right arm, absent proximal part of the left humerus Agenesis of the corpus callosum, porencephaly, cleft palate, malformed ears. Patient's sibling had similar facial features without the skeletal Samson and Gardner [1996] Craniosynostosis, aplastic thumbs, contractures of elbows and knees Hydrocephalus, brain abnormalities Sahoo et al [1996] Humero-ulnar, carpal, and metacarapal synostoses, ulnar hypoplasia, cleft hand Faivre et al [2001] Absent clavicles, oligodactyly Severe growth retardation Shotelersuk et al [2002] Craniosynostosis, clover-leaf skull, broad thumbs and great toes, severe multiple bony ankyloses of vertebrae, and large and small joints aromelic frontonasal dysplasia, posterior PFM were also detected [Hing et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

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Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

Al‐Hassnan

Teebi

2007

American J of Med Genetics Pt A

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Humero-radial synostosis (HRS) is a rare skeletal anomaly that might be seen in some craniosynostosis syndromes, notably Antley-Bixler syndrome, and in other disorders in association with skeletal anomalies. Here we report on two daughters of first cousin Saudi parents with syndromic HRS. Both patients had distinctive craniofacial features including cranium bifidum occultum, hypertelorism, epicanthus inversus, capillary hemangiomata, and malformed ears. Musculoskeletal examination revealed rhizomelic shortness with normal hands and feet. Skeletal survey showed bilateral HRS with no evidence of craniosynostosis. The craniofacial manifestations in these two patients do not match any of the syndromes known to be associated with HRS. We consider that the constellation is unique and apparently represents a previously unrecognized syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

Al‐Hassnan

Teebi

2007

American J of Med Genetics Pt A

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Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Bermejo‐Sánchez

Cuevas

Amar³

et al. 2011

American J of Med Genetics Pt C

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This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.

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Ear anomalies, clefting and limb reduction defects

Cited by 2 publications

References 0 publications

Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

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