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|IMAGES IN MEDICINE
|Year : 2001 | Volume
| Issue : 2 | Page : 131-2
A variant of Poland syndrome.
JS Nachnani, AN Supe
Dept. of Surgery, Seth G. S. Medical College and K. E. M. Hospital, Parel, Mumbai - 400 012, India. , India
J S Nachnani
Dept. of Surgery, Seth G. S. Medical College and K. E. M. Hospital, Parel, Mumbai - 400 012, India.
Source of Support: None, Conflict of Interest: None
Keywords: Adult, Case Report, Human, Male, Poland Syndrome, pathology,rehabilitation,
|How to cite this article:|
Nachnani J S, Supe A N. A variant of Poland syndrome. J Postgrad Med 2001;47:131
A 30-year-old man presented with aesthetic complaints of weakness on the right side along with maldevelopment of right hand since birth. The birth history was uneventful. There was no history of exposure to teratogenic drugs. Seven other siblings were normal. The parents did not have a similar defect.
On examination the patient had symbrachydactly of the right hand [Figure - 1] along with absent pectorals on the right side since birth [Figure - 2]. The little finger of the left hand showed hypoplastic middle and terminal phalanges [Figure - 3]. Sensory examination was normal.
Dermatoglyphic findings were: left hand showed an atd angle of 550, thenar pattern Ar, hypothenar pattern Lu, fingers showing a majority of loops. Right hand showed a majority of loops with an atd angle of 600 thenar pattern Ar and hyphothenar pattern Au respectively.
Roentgenograms of the hand confirmed the findings. X-ray chest showed no evidence of dextrocardia or rib defects. X-ray abdomen too did not reveal any abnormality. Neuroimaging was not carried out. The patient was given physiotherapy to develop muscles of the shoulder girdle with recourse to reconstructive surgery if desired. The patient was also counselled regarding the negligible recurrence risk in families.
Polandís syndrome, also known as Polandís sequence or Polandís anomaly, consists of many distinctive features. The most prominent, among them are ipsilateral hand anomalies chiefly in the form of syndactyly along with absence of pectorals. Polandís syndrome was first described by Alfred Poland in 1841 and includes partial or complete absence of pectoralis along with ipsilateral hand anomalies, ranging from mild defects to severe bony abnormalities. The incidence ranges from 1:20000 to 1:50000 as reported by different authors. The right side of the body is affected three times more frequently than the left and it is more common in boys than in girls.
The exact aetiology of Polandís syndrome is unknown. The theory put forth is interruption of early embryonic blood supply to subclavian arteries, the vertebral arteries and or their branches. A combination of the blockade of various branches could lead to Poland syndrome along with its variants. These vascular disruptions could also lead to its relation with syndromes like Sprengel, Klippel-Fiel and Adams-Oliver syndrome.
Very few cases are familial. Most cases are sporadic, as this one. The inheritance can be autosomal dominant; however variable expressivity and reduced penetrance is usually present. Most case reports describe affliction of a single side. In our case report, we have described involvement of the contralateral side as well. There have been case reports of Poland syndrome associated with unusual defects which cannot be explained on the basis of compromised blood supply alone encompassing a host of abnormalities such as dextrocardia, genitourinary and spinal malformations and malignancies such as leukaemia and non-Hodgkin lymphoma. One such case report described by Kabra, et al., reported a myriad of abnormalities, not interrelated in which the contralateral side has also been affected, in addition to involvement of both the feet. They have hypothesized a possible link with the human homologue of the disorganization (Ds) mutation in laboratory mice with Poland anomaly being part of the Ds spectrum.
Reconstructive surgery is the main recourse of treatment and includes latissimus dorsi muscle flap and silicone breast implants to give the chest a normal shape. Also physical therapy may help to develop compensatory muscles of the shoulder girdle and preserve function of the shoulder girdle.
| :: References|| |
Thompson JS, Thompson MW. Genetics in Medicine. Philadelphia; W. B. Saunders: 1980. pp 324. |
|2.||Poland A. Deficiency of the pectoral muscles. Guy Hosp Rep 1841 pp 191-193. |
|3.||Al-Qattan MM. Classification of hand anomalies in Polandís syndrome. Br J Plast Surg 2001; 54:132-136. |
|4.||Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies. Am J Med Genet 1986; 23:903-918. |
|5.||Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am J Med Genet 1991; 38:69-73. |
|6.||Kabra M, Suri M, Jain U, Verma IC. Poland anomaly with unusual associated anomalies. Am J Med Genet 1994; 52:402-405. |
|7.||Gatti JE. Polandís deformity reconstructions with a customized, extrasoft silicone prosthesis. Ann Plast Surg 1997; 39:122-130.
[Figure - 1], [Figure - 2], [Figure - 3]
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