Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male
Meromelia refers to the partial absence of at least 1 limb and is also referred to as “terminal transverse hemimelia.” It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenita...
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| Published in: | Radiology case reports Vol. 15; no. 7; pp. 882 - 886 |
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| Abstract | Meromelia refers to the partial absence of at least 1 limb and is also referred to as “terminal transverse hemimelia.” It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity. A case of upper limb meromelia accompanied by proximal focal femoral deficiency and fibular hemimelia in a neonate has previously been reported. However, to our knowledge, the association of upper limb meromelia with intermetatarsal coalition has never been reported to date. Here, we present an adult patient showing an unusual association of multiple rare congenital skeletal abnormalities including meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition. |
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| AbstractList | Meromelia refers to the partial absence of at least 1 limb and is also referred to as "terminal transverse hemimelia." It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity. A case of upper limb meromelia accompanied by proximal focal femoral deficiency and fibular hemimelia in a neonate has previously been reported. However, to our knowledge, the association of upper limb meromelia with intermetatarsal coalition has never been reported to date. Here, we present an adult patient showing an unusual association of multiple rare congenital skeletal abnormalities including meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition. |
| Author | Özdemir, Meltem Demiral, Berat Kavak, Rasime Pelin Tangobay, Erdi |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32382373$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.foot.2014.02.001 10.1136/bcr-2019-232714 10.1016/j.radcr.2019.05.035 10.1053/j.jfas.2015.08.016 10.1186/1750-1172-1-19 10.1002/ajmg.a.33999 10.7547/87507315-81-7-384 10.3928/01477447-20081201-14 10.1054/foot.2001.0701 10.1002/ajmg.c.30319 10.1007/s00383-005-1515-5 10.1111/j.1741-4520.2008.00210_1.x 10.1177/112070000901906s05 10.1002/ajmg.1320310103 |
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| Keywords | Proximal focal femoral deficiency Meromelia Fibular hemimelia Metatarsal coalition |
| Language | English |
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ident: 10.1016/j.radcr.2020.04.030_bib0013 article-title: Congenital metatarsal synostosis publication-title: Foot (Edinb) doi: 10.1054/foot.2001.0701 contributor: fullname: Mohammed – volume: 157C start-page: 288 issue: November (4) year: 2011 ident: 10.1016/j.radcr.2020.04.030_bib0003 article-title: 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 publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.30319 contributor: fullname: Bermejo-Sánchez – volume: 21 start-page: 825 issue: October (10) year: 2005 ident: 10.1016/j.radcr.2020.04.030_bib0004 article-title: A neonate with anorectal malformation with rare limb defects report of a case publication-title: Pediatr Surg Int doi: 10.1007/s00383-005-1515-5 contributor: fullname: Ratan – volume: 49 start-page: 33 issue: March (1) year: 2009 ident: 10.1016/j.radcr.2020.04.030_bib0005 article-title: Left-sided gastroschisis with meromelia of the limbs: a rare association publication-title: Congenit Anom (Kyoto) doi: 10.1111/j.1741-4520.2008.00210_1.x contributor: fullname: Punia – volume: 19 start-page: S18 issue: January-March (Suppl 6) year: 2009 ident: 10.1016/j.radcr.2020.04.030_bib0006 article-title: Proximal focal femoral deficiency (PFFD): management options and controversies publication-title: Hip Int doi: 10.1177/112070000901906s05 contributor: fullname: Westberry – volume: 31 start-page: 5 issue: 1 year: 1988 ident: 10.1016/j.radcr.2020.04.030_bib0017 article-title: Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5: a previously apparently undescribed MCA/ MR syndrome publication-title: Am J Med Genet doi: 10.1002/ajmg.1320310103 contributor: fullname: Pfeiffer |
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| Snippet | Meromelia refers to the partial absence of at least 1 limb and is also referred to as “terminal transverse hemimelia.” It can occur in either isolation or with... Meromelia refers to the partial absence of at least 1 limb and is also referred to as "terminal transverse hemimelia." It can occur in either isolation or with... |
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| SubjectTerms | Fibular hemimelia Meromelia Metatarsal coalition Musculoskeletal Proximal focal femoral deficiency |
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| Title | Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male |
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