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short-rib polydactyly syndrome type 3

MIM.263510

Wednesday 17 May 2006

Autosomal recessive disease

Synopsis

- craniofacial anomalies

  • short cranial base
  • bulging forehead
  • depressed nasal bridge
  • flat occiput

- skeletal anomalies

  • short ribs
  • narrow thorax with neonatal asphyxia
  • fibular agenesis (absence of fibulae) (16113563)
  • distinct corticomedullary demarcation of long tubular bones
  • widened metaphyses
  • marked longitudinal spurs
  • PAS-positive and diastase-resistant cytoplasmic inclusion bodies
  • "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends. (11815874)
    • This deformity resulted from a ’tandem’ change in endochondral bone formation that is, arrested orthotopic cartilage maturation and etherotopic perichondral cartilage differentiation and ossification. (11815874)
    • At the cartilaginous end, cartilage maturation and vascular invasion were absent. (11815874)
  • At the bony end, longitudinal bone growth occurred by a perichondral ectopic growth plate. (11815874)
  • ’Miniature’ versions of this ’tandem’ change were also demonstrated in the long bones of the limbs and included focally arrested orthotopic cartilage maturation at the growth plates, perichondral cartilage differentiation, and ossification within cartilage canals. (11815874)
    • A generalized loss of syncrony in cartilage removal and osteogenic differentiation occurs in all growth plates, albeit with varied expressivity, and represents, at tissue level, the mechanism by which the SRPS-III skeletal phenotype develops. (11815874)

- genitourinary anomalies

- rare situs inversus (1481807)

Associations

- Mohr oral-facial-digital syndrome (OFD type Mohr) (11200995, 9555586)
- Aicardi-Goutieres syndrome-1 (AGS1) (congenital infection-like syndrome) (TREX1 mutations) (MIM.225750) (10874634)
- Jeune syndrome (Jeune asphyxiating thoracic dystrophy) (familial association) (10710229)
- rare situs inversus (heterotaxy) (1481807)

Variants

- Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities (9843054)

See also

- short rib-polydactyly syndromes (SRPSs)

References

- Kumru P, Aka N, Köse G, Vural ZT, Peker O, Kayserili H.Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).Fetal Diagn Ther. 2005 Sep-Oct;20(5):410-4. PMID: 16113563

- Corsi A, Riminucci M, Roggini M, Bianco P.Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype.Pediatr Dev Pathol. 2002 Jan-Feb;5(1):91-6. PMID: 11815874

- Chen CP, Tzen CY.Short-rib polydactyly syndrome type III (Verma-Naumoff) in a third-trimester fetus with unusual associations of epiglottic hypoplasia, renal cystic dysplasia, pyelectasia and oligohydramnios. Prenat Diagn. 2001 Dec;21(12):1101-2. PMID: 11746172

- Golombeck K, Jacobs VR, von Kaisenberg C, Oppermann HC, Reinecke-Lüthge A, Weisner D, Jonat W.Short rib-polydactyly syndrome type III: comparison of ultrasound, radiology, and pathology findings. Fetal Diagn Ther. 2001 May-Jun;16(3):133-8. PMID: 11316927

- Young LW, Wilhelm LL, Zuppan CW, Clark R.Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.Pediatr Radiol. 2001 Jan;31(1):31-5. PMID: 11200995

- Ho NC, Francomano CA, van Allen M. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet. 2000 Feb 14;90(4):310-4. PMID: 10710229

- al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J.Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.J Med Genet. 1999 Jun;36(6):461-6. PMID: 10874634

- Hentze S, Sergi C, Troeger J, Revell PA, Otto HF, Tariverdian G.Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.Am J Med Genet. 1998 Nov 16;80(3):281-5. PMID: 9843054

- Myong NH, Park JW, Chi JG.Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.J Korean Med Sci. 1998 Apr;13(2):201-6. PMID: 9610623

- Meizner I, Barnhard Y.Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.Prenat Diagn. 1995 Jul;15(7):665-8. PMID: 8532628

- Bronstein M, Reichler A, Borochowitz Z, Bejar J, Drugan A.Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism. Am J Med Genet. 1994 Jan 1;49(1):6-9. PMID: 8172252

- de Sierra TM, Ashmead G, Bilenker R.Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus.Am J Med Genet. 1992 Nov 15;44(5):555-7. PMID: 1481807

- Sharma AK, Phadke S, Chandra K, Upreti M, Khan EM, Naveed M, Agarwal SS.Overlap between Majewski and hydrolethalus syndromes: a report of two cases.Am J Med Genet. 1992 Aug 1;43(6):949-53. PMID: 1415345

- Erzen M, Stanescu R, Stanescu V, Maroteaux P.Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia.Ann Genet. 1988;31(3):144-50. PMID: 2464965

- Naumoff P, Young LW, Maser J, Amortegui AJ (1977): Short rib polydactyly syndrome type 3. Radiology 122: 443-447.