## Abstract Poland anomaly (PA) is a pectoral muscle hypoplasia/aplasia variably associated with ipsilateral thoracic (TA) and/or upper limb anomalies (ULA). PA is usually sporadic and sometimes familial, making recurrence risk an issue in genetic counseling. Multidisciplinary evaluation of 240 PA
Poland anomaly in mother and daughter
โ Scribed by Cobben, Jan M. ;Robinson, Peter H. ;van Essen, Antonie J. ;van der Wiel, Herman L. ;ten Kate, Leo P.
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 345 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
We report on Poland anomaly in a mother and her daughter. Further family history was negative for abnormalities of the hands or the pectoralis major muscle. A review of published cases of familial Poland anomaly is presented. Implications concerning the possible etiology of familial cases of Poland anomaly are given.
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FIG. 4. Sagittal (a) and axial (b) T1-weighted images of the brain demonstrate complete absence of the cerebral hemispheres, basal ganglia, and thalami with preservation of the falx. Cerebellum and brain system are severely underdeveloped.
The diagnostic of bilateral Poland anomaly proposed by Karnak et al. [1998] in a 6-year-old girl with chest deformity and hand involvement is not convincing. This observation is in fact an example of a typical case of Jeune dysplasia. From a clinical point of view the morphology of the thorax is ch