Hailey was born with Poland Syndrome
which caused the fingers on her right hand to be underdeveloped.
(OMIM 173800), a rare congenital syndrome with incidence between 1/10.000-100.000, was first described by Alfred Poland in 1841 (1,2).
Additional conditions considered in the patient's differential diagnosis included Poland syndrome
and MURCS (mullerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia) association; however, these were unlikely due to the lack of symptomology classically associated with the musculoskeletal deformities seen in each condition.
Orofacial dysmorphism, cognitive retardation, extremity defects, Klippel-Feil anomaly, Poland syndrome
, and epilepsy may also be observed in Moebius syndrome (7).
Hypoplasia and aplasia of the rib (11 pairs of ribs) can be observed together with Down Syndrome and Poland Syndrome
.24,25 In the lower thoracic region, a rudimentary 12th rib and asymmetry in its size are frequently encountered, but this does not show any significant clinical importance.
Hereditary Poland syndrome
with megacalycosis of the right kidney.
DISCUSSION: Named after Sir Alfred Poland, Poland syndrome
includes the features of ipsilateral breast and nipple hypoplasia and/or aplasia, deficiency of subcutaneous fat and axillary hair, absence of the sternal head of the pectoralis major muscle, hypoplasia of the rib cage, and hypoplasia of the upper extremity.
Other varieties that cleared the screening test included candidates suffering from Poland syndrome
, situs inversus and neurofibromatosis.
IN WHAT has been termed a breakthrough surgery, doctors at a hospital in Delhi have used body fat from the thigh to help recreate natural breast of a woman who was diagnosed with a condition called Poland syndrome
"Sam is a great role model for Taekwondo as the 18 year old has Poland Syndrome
and showed great indomitable spirit in winning his event."
On this occasion, I would like to bring to attention that the Poland syndrome
's association with leukemia was previously reported by us (6).
Additionally, the clinical overlap with other well-characterized malformations like Poland syndrome
, cutis marmorata telangiectatica congenita, and aplasia cutis congenita, makes its diagnosis challenging and may compromise accurate genetic counseling and risk estimation.