acro-pectoro-renal field defect

2
Keywords Absent pectoral muscles · Renal anomalies Sirs, We read with interest the excellent article by Assadi and Salem [1]. They reported a 7-month-old girl with Poland anomaly who had absence of the right pectoralis major and minor muscles, ipsilateral renal agenesis, multiple rib anomalies, hypoplasia of the thumb, and elevation of the diaphragm, as well as atrial septal defect, thoraco- lumbar kyphosis, and gastroesophageal reflux [1]. Congenital absence of the pectoral muscles with digital and shoulder girdle anomalies has been construed as a development field defect and the association of these defects with renal anomaly has been designated as acro- pectoro-renal field defect [2, 3]. To our knowledge, there are, including the present case, 12 such instances of combination of absent pectoral muscles and renal anom- alies in the literature (Table 1). References 1. Assadi FK, Salem M (2002) Poland syndrome associated with renal agenesis. Pediatr Nephrol 17:269–271 2. Gilbert ET, Opitz JM (1979) L’atteinte renal au cours des syn- dromes malformatifs hereditaires. In: Hamberger et al. (eds) Traite de nephrologie, vol. 2. Flammarion, Paris, pp 936–970 3. Hegde HR, Shokier MHK (1982) Posterior shoulder girdle ab- normalities with absence of pectoralis major muscle. Am J Med Genet 13:285–293 4. Hegde HR, Leung AK (1989) Aplasia of pectoralis major muscle and renal anomalies. Am J Med Genet 32:109–111 5. Hegde HR, Leung AK, Robson WLM (1995) Acro-pectoro- renal field defect with contralateral ureteropelvic junction ob- struction. Clin Genet 47:210–213 6. Temtamy S, Mckusick VA (1969) Synopsis of hand malforma- tions with particular emphasis on genetic factors. In: Bergsma D (ed) Limb malformations. Williams and Wilkins, for the National Foundation—March of Dimes, Baltimore, pp 125–184 7. Curran AS, Curran JP (1972) Associated acral and renal mal- formations: a new syndrome. Pediatrics 49:716–725 8. Mace JW, Kaplan JM, Schanberger JE, Goltin RW (1972) Poland’s syndrome. Report of seven cases and review of the literature. Clin Pediatr (Phila) 2:98–102 9. Miller RA, Miller DR (1975) Congenital absence of pectoralis major muscle with acute lymphoblastic leukemia and genito- urinary anomalies. J Pediatr 87:146–147 10. Qvist N, Nielsen K, Christensen PVO (1987) Aplasia of major pectoral muscle combined with renal aplasia and cystic malformation of common iliac vein. Urology 24:434–435 11. Wilson MR, Louis DS, Stevenson TR (1988) Poland’s syn- drome: variable expression and associated anomalies. J Hand Surg 13A:880–882 12. Cobben JM, Van Essen AJ, McParland PC, Polman HA, Kate LP ten (1992) A boy with Poland anomaly and facio-auriculo- vertebral dysplasia. Clin Genet 41:105–107 H. R. Hegde · A. K. C. Leung Department of Pediatrics, The Alberta Children’s Hospital, Calgary, Alberta, Canada H. R. Hegde ( ) Peter Lougheed Centre, 3500–26th Avenue NE, Calgary, Alberta T1Y 6J4 Canada e-mail: [email protected] Fax: +1-403-2935372 Pediatr Nephrol (2003) 18:307–308 DOI 10.1007/s00467-002-1026-8 LETTER TO THE EDITORS Hardally R. Hegde · Alexander K. C. Leung Acro-pectoro-renal field defect Published online: 25 February 2003 © IPNA 2003

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Page 1: Acro-pectoro-renal field defect

Keywords Absent pectoral muscles · Renal anomalies

Sirs,

We read with interest the excellent article by Assadi andSalem [1]. They reported a 7-month-old girl with Polandanomaly who had absence of the right pectoralis majorand minor muscles, ipsilateral renal agenesis, multiplerib anomalies, hypoplasia of the thumb, and elevation ofthe diaphragm, as well as atrial septal defect, thoraco-lumbar kyphosis, and gastroesophageal reflux [1]. Congenital absence of the pectoral muscles with digitaland shoulder girdle anomalies has been construed as adevelopment field defect and the association of these defects with renal anomaly has been designated as acro-pectoro-renal field defect [2, 3]. To our knowledge, thereare, including the present case, 12 such instances ofcombination of absent pectoral muscles and renal anom-alies in the literature (Table 1).

References

1. Assadi FK, Salem M (2002) Poland syndrome associated withrenal agenesis. Pediatr Nephrol 17:269–271

2. Gilbert ET, Opitz JM (1979) L’atteinte renal au cours des syn-dromes malformatifs hereditaires. In: Hamberger et al. (eds)Traite de nephrologie, vol. 2. Flammarion, Paris, pp 936–970

3. Hegde HR, Shokier MHK (1982) Posterior shoulder girdle ab-normalities with absence of pectoralis major muscle. Am JMed Genet 13:285–293

4. Hegde HR, Leung AK (1989) Aplasia of pectoralis majormuscle and renal anomalies. Am J Med Genet 32:109–111

5. Hegde HR, Leung AK, Robson WLM (1995) Acro-pectoro-renal field defect with contralateral ureteropelvic junction ob-struction. Clin Genet 47:210–213

6. Temtamy S, Mckusick VA (1969) Synopsis of hand malforma-tions with particular emphasis on genetic factors. In: BergsmaD (ed) Limb malformations. Williams and Wilkins, for the National Foundation—March of Dimes, Baltimore, pp 125–184

7. Curran AS, Curran JP (1972) Associated acral and renal mal-formations: a new syndrome. Pediatrics 49:716–725

8. Mace JW, Kaplan JM, Schanberger JE, Goltin RW (1972) Poland’s syndrome. Report of seven cases and review of theliterature. Clin Pediatr (Phila) 2:98–102

9. Miller RA, Miller DR (1975) Congenital absence of pectoralismajor muscle with acute lymphoblastic leukemia and genito-urinary anomalies. J Pediatr 87:146–147

10. Qvist N, Nielsen K, Christensen PVO (1987) Aplasia of majorpectoral muscle combined with renal aplasia and cystic malformation of common iliac vein. Urology 24:434–435

11. Wilson MR, Louis DS, Stevenson TR (1988) Poland’s syn-drome: variable expression and associated anomalies. J HandSurg 13A:880–882

12. Cobben JM, Van Essen AJ, McParland PC, Polman HA, KateLP ten (1992) A boy with Poland anomaly and facio-auriculo-vertebral dysplasia. Clin Genet 41:105–107

H. R. Hegde · A. K. C. LeungDepartment of Pediatrics, The Alberta Children’s Hospital,Calgary, Alberta, Canada

H. R. Hegde (✉)Peter Lougheed Centre,3500–26th Avenue NE, Calgary, Alberta T1Y 6J4 Canadae-mail: [email protected]: +1-403-2935372

Pediatr Nephrol (2003) 18:307–308DOI 10.1007/s00467-002-1026-8

L E T T E R T O T H E E D I T O R S

Hardally R. Hegde · Alexander K. C. Leung

Acro-pectoro-renal field defect

Published online: 25 February 2003© IPNA 2003

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Page 2: Acro-pectoro-renal field defect

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Table 1 Reported cases of acro-pectoro-renal field defect (L left, R right, I ipsilateral, C contralateral, NA not available)

Authors Sex Age Side Other musculoskeletal Renal anomalies Other anomalies(years) anomalies

Temtamy and Mckusick F 16 L Symbrachydactyly Hypoplasia (I)(1969) [6]Curran and Curran (1972) [7] M 6 R Absent middle finger, Duplication of Hypospadias,

polydactyly, collecting undescended brachydactyly, pectus system (C) testicle (I), carinatum, spina bifida antimongoloid occulta, hypoplastic palpebral fissure12th rib

Mace et al. (1972) [8] M 1 R Absent thumb, Agenesis (I), Undescended spina bifida occulta, hypertrophy (C) testicle (I)thoracic hemivertebrae

Miller and Miller (1975) [9] M 9 R Agenesis (C) Lymphoblastic leukemia, undescended testicle (C)

Qvist et al. (1987) [10] M 18 L Agenesis (I) Ureterocele, malformed common iliac vein

Wilson et al. (1988) [11] NA NA NA AgenesisNA NA NA Ureteral reflux

Hegde and Leung (1989) [4] F 9 R Hypoplasia of serratus Agenesis (I) Encephalocele, anterior muscle (I), myopiaSprengel anomaly, (C), fusion of cervical vertebrae

M 69 R Agenesis of Duplication of Diabetes mellitussupraspinatus collecting muscle (I) system (I)

Cobben et al. (1992) [12] M 3 L Absent thumb, Agenesis (I) Microtiahypoplasia of arm, hypoplastic fingers, dysplastic radius, thoracic hemivertebrae, fusion of ribs

Hegde et al. (1995) [5] M 1/2 R Absent thumb Ureteropelvic Cupping of ear and fingers (I) junction (C), hypoplastic

obstruction (C) nipple and areola (I)Assadi and Salem (2002) [1] F 1/2 R Hypoplasia of thumb (I), Agenesis (I) Atrial septal

multiple rib anomalies (I), defect, elevation thoraco-lumbar kyphosis of diaphragm (I)