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Literature DB >> 28990185

Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.

Zeng Zhang¹, Dan Yi², Rong Xie², John L Hamilton², Qing-Lin Kang¹, Di Chen².

Abstract

Postaxial limb hypoplasia (PALH) is a group of nonhereditary diseases with congenital lower limb deficiency affecting the fibular ray, including fibular hemimelia, proximal femoral focal deficiency, and tarsal coalition. The etiology and the developmental biology of the anomaly are still not fully understood. Here, we review the previous classification systems, present the clinical features, and discuss the developmental biology of PALH.

Entities: Chemical Disease Gene Mutation Species

Keywords: Wnt signaling; fibular hemimelia; postaxial hypoplasia; proximal femoral focal deficiency; skeletal development; tarsal coalition

Mesh：

Year: 2017 PMID： 28990185 PMCID： PMC5730483 DOI： 10.1111/nyas.13440

Source DB: PubMed Journal: Ann N Y Acad Sci ISSN： 0077-8923 Impact factor: 5.691

100 in total

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Journal: Biochem Soc Trans Date: 1994-08 Impact factor: 5.407

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Journal: Birth Defects Orig Artic Ser Date: 1974

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Journal: Okajimas Folia Anat Jpn Date: 2001-08

7. Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity.

Authors: S T Baur; J J Mai; S M Dymecki
Journal: Development Date: 2000-02 Impact factor: 6.868

Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.

1. Congenital absence of the fibula.

2. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

3. Congenital limb anomalies:frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964-68).

Review 4. Sonic hedgehog: a key mediator of anterior-posterior patterning of the limb and dorso-ventral patterning of axial embryonic structures.

5. Proximal focal femoral deficiency (familial).

Review 6. Proximal focal femoral deficiency, contralateral hip dysplasia in association with contralateral ulnar hypoplasia and clefthand: a case report and review of literatures of PFFD and/or FFU.

7. Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity.

8. The role of Engrailed in establishing the dorsoventral axis of the chick limb.

9. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

10. Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development.

1. Postaxial hypoplasia of the lower extremity associated with congenital dislocation of the patella: A case report.

2. A novel enhancer near the Pitx1 gene influences development and evolution of pelvic appendages in vertebrates.