Poland syndrome

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