Tetra-amelia and splenogonadal fusion in Roberts syndrome

Ravel, Thomy de; Seftel, Matthew D.; Wright, Colleen A.

doi:10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q

Cited by 25 publications

(8 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…22 Tetra-amelia associated with facial clefts and pulmonary hypoplasia is called Roberts-SC phocomelia syndrome. 23 Our tetra-amelia case showed right lung hypoplasia, hypospadias, and undescended testes, with no other anomalies.…”

Section: Discussionmentioning

confidence: 64%

Limb anomaly and associated conditions: our clinical experience

Ragavan¹,

Haripriya²,

Sarvavinothini³

et al. 2011

PHMT

View full text Add to dashboard Cite

Limb anomalies are a common clinical problem with a various spectrum of involvement. There are many conditions associated with these anomalies. There is a variable extent of involvement in the form of agenesis, overgrowth, and duplication, and there is no standard classification to describe all these lesions. Studying limb anomalies provides insights into limb development which may be useful for etiologic studies and public health monitoring. We pooled our data for 12 limb anomaly cases presenting from January 2008 to May 2009 and investigated their associated conditions. A descriptive system for the nomenclature and classification of congenital limb malformations suitable for clinical, epidemiological, and experimental use is discussed.

show abstract

Section: Discussionmentioning

confidence: 64%

Limb anomaly and associated conditions: our clinical experience

Ragavan¹,

Haripriya²,

Sarvavinothini³

et al. 2011

PHMT

View full text Add to dashboard Cite

show abstract

“…Thalidomide, cocaine, retinoic acid, ethanol, and valproic acid have been implicated in the development of limb deficiencies [Kallen et al, 1984; Lammer et al, 1985; Froster and Baird, 1992; Aulthouse and Hitt, 1994; Hume et al, 1997; Rodriguez‐Pinilla et al, 2000]. Other possible causes include genetic mutations and chromosomal abnormalities [Lipson, 1995; de Ravel et al, 1997].…”

Section: Discussionmentioning

confidence: 99%

Splenogonadal fusion‐limb defect “syndrome” and associated malformations

McPherson

Frías

Spicer

et al. 2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Two types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral-facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF.

show abstract

“…The concurrence of symmetrical limb deficiencies and cleft palate are features known to occur in Roberts syndrome, another rare autosomal recessive MCA syndrome characterized by symmetrical limb defects, midfacial clefting, and premature centromeric division in chromosome studies [Fryns et al, 1987; Wertelecki, 1990; Benzacken et al, 1996; de Ravel et al, 1997; Pavlopoulos et al, 1998]. In affected children, abnormal brain segmentation, interocular encephalocoeles, ocular malformations, maxillary agenesis, agenesis of the nostrils, and spina bifida have also been documented [Wertelecki, 1990].…”

Section: Discussionmentioning

confidence: 99%

MCA syndrome with renal‐hepatic‐pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies

et al. 2002

View full text Add to dashboard Cite

We report the second trimester prenatal diagnosis of severe symmetrical limb deficiencies with posterior fossa cyst and cardiac anomaly in a female fetus. Fetopathological examination revealed additional anomalies: renal-hepatic-pancreatic dysplasia, cleft palate, and Müllerian duct anomaly. The spectrum of congenital malformations in the present observation is difficult to classify into a single syndrome entity and presents an overlap with several syndromes: Roberts syndrome, Goldston syndrome, and renal-hepatic-pancreatic dysplasia.

show abstract

Tetra-amelia and splenogonadal fusion in Roberts syndrome

Cited by 25 publications

References 14 publications

Limb anomaly and associated conditions: our clinical experience

Limb anomaly and associated conditions: our clinical experience

Splenogonadal fusion‐limb defect “syndrome” and associated malformations

MCA syndrome with renal‐hepatic‐pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies

Contact Info

Product

Resources

About