Aplasia of the tibia with bifurcation of the femur and ectrodactyly: Evidence for an autosomal recessive type

Kohn, Gertrude; Shawwa, Raghda El; Grunebaum, Michael F.

doi:10.1002/ajmg.1320330206

Cited by 36 publications

(27 citation statements)

References 7 publications

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“…In the family reported here, the parents were consanguineous, but in the Arab population the rate of consanguinity is high [Teebi and Farag, 1997], therefore consanguinity represents only a weak argument in favor of autosomal recessive inheritance. Nevertheless, many of the previously reported families [Majewski et al, 1985], the two consanguineous families reported by Kohn et al [1989] and the family reported here, are Arab Muslim families from the same geographic area. Therefore, the existence of an autosomal recessive gene must be considered [Majewski et al, 1996].…”

Section: Discussionmentioning

confidence: 66%

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Raas‐Rothschild¹,

Nir²,

Ergaz³

et al. 1999

Am. J. Med. Genet.

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We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

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Section: Discussionmentioning

confidence: 66%

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Raas‐Rothschild¹,

Nir²,

Ergaz³

et al. 1999

Am. J. Med. Genet.

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“…Wolfgang [ 19841 published a typically affected offspring of healthy Amish parents, known to be mostly consanguineous. This high rate of consanguinity might hint at a recessive type of tibia1 aplasia with ectrodactyly, as suggested by Kohn et al [1989] and other authors. The consanguineous parents originated from Palestine [Der Kaloustian and Mnaymneh, 19731, Iran [Emami-Ahari and Mahloudji, 1974;Mahloudji and Farpour, 19741, Syria [Majewski et al, 19851, Brazil [Richieri-Costa, 1987a,cl, Saudi-Arabia [Mufti and Wood, 19871, Arabia [Kohn et al, 19891, Turkey [Sener et al, 1989, 19901, and Algeria (this report).…”

Section: Discussionmentioning

confidence: 80%

“…However, the same authors published on a consanguineous and healthy couple from Syria, who had three affected children. A total of 17 families with 39 affected sibs and normal parents have been described [White and Baker, 1888;Schwarzweller, 1939;Takahashi et al, 1968;Emami-Ahari and Mahloudji, 1974;Fried et al, 1977;Gollop et al, 1980;Kapur et al, 1982;Lenz, 1982;McKay et al, 1984;Majewski et al, 1985;RichieriCosta et al, 1987b,c;Mufti and Wood, 1987;Kohn et al, 1989;Sener et al, 1990;this report]. Further single cases with consanguineous parents were reported by Der Kaloustian and Mnaymneh [1973], Mahloudji and Farpour [ 19741, Richieri-Costa [1987al, and Sener et al [ 19891.…”

Section: Discussionmentioning

confidence: 98%

“…In a previous paper, Majewski et al [1985] favoured autosomal dominant inheritance with highly reduced penetrance. However, Kohn et al [1989] argued for autosomal recessive inheritance in two consanguineous families. Here, we present observations on a consanguineous couple with a n affected boy and a further healthy couple with two affected children and a n affected nephew from a consanguineous mating.…”

Section: Introductionmentioning

confidence: 97%

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Ectrodactyly and absence (hypoplasia) of the tibia: Are there dominant and recessive types?

Majewski¹,

Goecke²,

Meinecke

1996

Am. J. Med. Genet.

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We present a kindred of brother, sister, and cousin with ectrodactyly and hypoplasia of the tibia. The parents of the cousin are consanguineous; the parents of the sibs originate from the same small Algerian village. We also report on a boy with tibial defect and split hands and feet with consanguineous parents. These observations are further hints for an autosomal recessive type of ectrodactyly with aplasia (hypoplasia) of the tibia, as was favoured by some authors. However, review of the present and reported cases does not demonstrate any clinical differences between the seemingly recessive and the dominant types. Statistical analysis of 17 families with affected sibs and normal parents showed a 1:3.1 ratio of affected:unaffected by the proband method. Despite consanguinity among nine sets of parents, this ratio, and ∼30 additionally reported families generally are in favour of autosomal dominance with reduced penetrance. © 1996 Wiley‐Liss, Inc.

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“…Sıklıkla ailesel geçiş söz konusudur ancak kalıtım tipi net değildir. Çeşitli çalışmalarda otozomal dominant, otozomal resesif ve X'e bağlı geçişler tanımlanmıştır (6). Literatürde 100'den fazla sporadik olgu ile birlikte yaklaşık 50 kadar SHFLD'li aile tanımlanmıştır.…”

Section: Introductionunclassified

A case of split hand/foot malformation with tibial hypoplasia

Melekoğlu¹,

Taviloğlu²,

Sivaslı³

2014

Gaziantep Med J

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Split hand/foot malformation (SHFM), also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of hands and/or feet due to the failure of ectodermal ridge activity. Split hand/foot malformation with long bone deficiency (SHFLD, OMIM 119100) is a rare condition and clinical manifestations are highly variable. SHFLD incidence is 1 in 1.000.000 live births. Here we report a premature newborn born at 33 gestational weeks with limb anomalies and diagnosed as split hand/foot malformation with tibial hypoplasia. With this case report, the importance of evaluating of patients with SHFLD for additional anomalies, estimating the appropriate time for limb salvage surgeries, achieving the best functional result with physiotherapy with multidisciplinary assessment was emphasized. Keywords: Ectrodactyly; split hand/foot malformation; tibial aplasia/hypoplasia Özet Yarık el/ayak malformasyonu (split hand/foot malformation, SHFM); ektrodaktili olarak da bilinen ve el ve/veya ayakta santral rayda yokluk nedeniyle parmak oluşum merkezindeki duraksama ile karakterize doğumsal bir ekstremite malformasyonudur. SHFM'nun uzun kemiklerde eksiklik ile giden tipi (split hand/foot malformation with long bone deficiency, SHFLD1, OMIM 119100) ise oldukça nadir görülür ve klinik olarak oldukça değişken görünümleri vardır. SHFLD insidansı 1/1.000.000 canlı doğumdur. Bu yazıda ekstremite anomalileri ile doğan ve tibia hipoplazisinin eşlik ettiği split el/ayak malformasyonu tanısı konan 33 haftalık bir yenidoğan sunuldu. Bu olgu nedeniyle de SHFLD tanılı hastaların multidisipliner değerlendirilme ile ek anomaliler açısından taranması ve uygun zamanda ekstremite koruyucu cerrahiler ve fizik tedavi ile en iyi fonksiyonel sonucun kazandırılmasının önemi vurgulandı. Anahtar kelimeler: Ektrodaktili; yarık el/ayak malformasyonu; tibial aplazi/hipoplazi Giriş Yarık el/ayak malformasyonu (split hand/foot malformation, SHFM); ektrodaktili olarak da bilinen ve el ve/veya ayakta santral rayda yokluk nedeniyle parmak oluşum merkezindeki duraksama ile karakterize doğumsal bir ekstremite malformasyonudur (1). Etkilenen ekstremitede medial yarıklar, sindaktili ve diğer fenotipik anomaliler ile genellikle ilişkili bulunan falanks, metakarp ve metatarslardaki aplazi veya hipoplazi ile kendini gösterir. Sıklığı yaklaşık olarak 1/18000'dir. Yarık el/ayak malformasyonları izole olarak görülebileceği gibi ektrodaktili, ektodermal displazi, yarık damak/dudak sendromu (EEC sendromu) ve ektrodaktili, ektodermal displazi, maküler distrofi sendromu (EEM sendromu) gibi sendromlara da eşlik edebilir (2). Aynı zamanda tibia hipoplazisine en sık eşlik eden defekt de split el/ayak malformasyonudur (OMIM 275220).

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Aplasia of the tibia with bifurcation of the femur and ectrodactyly: Evidence for an autosomal recessive type

Cited by 36 publications

References 7 publications

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Ectrodactyly and absence (hypoplasia) of the tibia: Are there dominant and recessive types?

A case of split hand/foot malformation with tibial hypoplasia

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