Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report

Journal of Clinical Ultrasound

Volumn 37, Issue 7, 2009, Pages 406-409

  Taori, Kishor B ^a   Sharbidre, Kedar G ^a   Krishnan, Vijay ^a   Kundargi, Nischal ^a   Kulkarni, Bipin R ^a   Satkar, Vinay ^a   Bopche, Sneha ^a  

^a GOVERNMENT MEDICAL COLLEGE   (India)

Author keywords

Ellis van Creveld syndrome; Obstetrics; Short rib polydactyly syndrome type IV (Beemer Langer syndrome); Skeletal dysplasia; Ultrasonography

Indexed keywords

ADULT; ARTICLE; AUTOPSY; BONE DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; CRYPTORCHISM; CYSTIC LYMPHANGIOMA; DISEASE ASSOCIATION; FEMALE; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HUMAN; MALE; OLIGOHYDRAMNIOS; OUTCOME ASSESSMENT; PERINATAL PERIOD; SHORT RIB POLYDACTYLY SYNDROME TYPE IV;

ABNORMALITIES, MULTIPLE; ADULT; AUTOPSY; FEMALE; FETAL DISEASES; HUMANS; KIDNEY; LYMPHANGIOMA, CYSTIC; PREGNANCY; PREGNANCY TRIMESTER, THIRD; SHORT RIB-POLYDACTYLY SYNDROME; STILLBIRTH; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 68849128998     PISSN: 00912751     EISSN: 10970096     Source Type: Journal    
DOI: 10.1002/jcu.20603     Document Type: Article

References (15)

1. Hentze S, Sergi C, Troeger J, et al. 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 1998:16;80:281. (Pubitemid 28533544)
2. Yang SS. The skeletal system. In: Wigglesworth SS, Singer DB, editors. Textbook of fetal and perinatal pathology. Boston: Blackwell Scientific Publications; 1991, p 1192.
3. Malhotra N, Sood M. Recurrence of short rib polydactyly syndrome - a rare skeletal dysplasia. Eur J Obstet Gynecol Reprod Biol 2000;89:193. (Pubitemid 30139530)
4. Elçioglu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. Am J Med Genet 2002;111:392.
5. Saldino RM, Noonan CD. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. AJR Am J Roentgenol Radium Ther Nucl Med 1972;114:257.
6. Cooper CP, Hall CM. Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. Radiology 1982;144:513.
7. Walley VM, Coates CF, Gilbert JJ, et al. Brief clinical report: short rib-polydactyly syndrome, Majewski type Am J Med Genet 1983;14:445.
8. Black IL, Fitzsimmons J, Fitzsimmons E. Parental consanguinity and the Majewski syndrome. J Med Genet 1982;19:141.
9. Knapp CH Jr, Santin-Hodges A, Cole RR. Laryngeal findings in short rib polydactyly syndrome: case report and embryological correlations. Laryngoscope 1990;100:579. (Pubitemid 20202751)
10. Kumru P, Aka N, Köse G, et al. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Fetal Diagn Ther 2005;20:410. (Pubitemid 41197066)
11. Beemer FA, Langer LO Jr, Klep-de Pater JM. A new short rib syndrome. Report of two cases. Am J Med Genet 1983;14:115.
12. Balci S, Ercal MD, Onol B, et al. Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. Clin Genet. 1991;39:298.
13. Ellis RWB, van Crevald S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis. Report of 3 cases. Arch Dis Child 1940;15:65.
14. Elejalde BR, de Elejalde MM, Pansch D. Prenatal diagnosis of Jeune syndrome. Am J Med Genet 1985;21:433.
15. Al-Gazali L, Sztriha L, Dawodu A, et al. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. J Med Genet. 1999;36:461. (Pubitemid 29267745)