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Review
. 2017 Dec;1409(1):67-78.
doi: 10.1111/nyas.13440. Epub 2017 Oct 9.

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

Zeng Zhang  1 , Dan Yi  2 , Rong Xie  2 , John L Hamilton  2 , Qing-Lin Kang  1 , Di Chen  2
Affiliations
Review

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

Zeng Zhang et al. Ann N Y Acad Sci. 2017 Dec.

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.

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

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Conflict of interest statement

Competing interests

The authors declare no competing interests.

Figures

Figure 1
Figure 1
According to the Achterman and Kalamchi classification, (A) represents type IA FH, (B) represents type IB FH, and (C) represents type II FH. Note that all three patients had hypoplasia of the lateral femoral condyle (white arrows) with different degrees of severity.
Figure 2
Figure 2
(A) Tarsal coalition. (B) Anteromedial bowing of the tibia. Also note that the ankle was poorly developed. (C) Ball-and-socket ankle joint.
See this image and copyright information in PMC

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