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Poland syndrome

Friday 27 October 2006

Autosomal dominant. All features are unilateral. It occurs on right side in 75% of cases.

Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand deformity.

It can include a spectrum of anomalies from a complete absence of the pectoralis major and minor, amastia, severe rib abnormalities, and absence of the hand, to minor hand abnormalities and isolated pectoralis minor aplasia.

The etiology is unknown, but speculation includes hypoplasia of the subclavian artery or its branches between the 6th and 7th week of gestation.

- Three times more common in males
- Majority of cases are sporadic
- Pedigrees compatible with autosomal dominant inheritance have been reported
- Poland syndrome can be associated with Moebius syndrome (MIM.157900)
- Subclavian artery supply disruption in embryogenesis has been suggested as etiology

Synopsis

- dextrocardia (in left-sided Poland sequence)
- ectopic liver tissue
- unilateral hypoplasia or absence of pectoralis major muscle
- absence of pectoralis minor muscle
- Sprengel anomaly
- hypoplastic ribs
- fused ribs
- unilateral hypoplasia or absence of nipple
- unilateral hypoplasia or absence of areola
- unilateral absence of breast
- hemivertebrae
- unilateral syndactyly
- unilateral brachydactyly
- unilateral oligodactyly
- hypoplasia of latissimus dorsi muscle
- hypoplasia of serratus anterior muscle
- hypoplasia of infraspinatus muscle
- hypoplasia of supraspinatus muscle
- hypoplasia of deltoid muscle

References

- malformative syndromes
- malformative associations

References

- Chalak LF, Parham DM. A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications. Pediatr Dev Pathol. 2007 Mar-Apr;10(2):134-7. PMID: 17378683