Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

Al-Awadi, S A; Teebi, Ahmad S.; Fårag, T I; Naguib, K M; El‐Khalifa, M. Y.

doi:10.1136/jmg.22.1.36

Cited by 53 publications

(45 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This syndrome has originally been reported in a nonBedouin Palestinian family from Kuwait [83] , followed by a more complete report on a second Arab family [84] .…”

Section: Limb/pelvis/hypoplasia/aplasia Syndromementioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

View full text Add to dashboard Cite

Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed.

show abstract

“…This syndrome has originally been reported in a nonBedouin Palestinian family from Kuwait [83] , followed by a more complete report on a second Arab family [84] .…”

Section: Limb/pelvis/hypoplasia/aplasia Syndromementioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

View full text Add to dashboard Cite

show abstract

“…Apart from thalidomide, hereditary aetiology like autosomal recessive inheritance was also proposed. Consanguinity was documented in most cases of AARR syndrome [6]. History of consanguinity and the mother being elderly gravida may be the aetiology in our case.…”

Section: Introductionmentioning

confidence: 48%

Tetra-Phocomelia: The Seal Limb Deformity - A Case Report

Samal

Rathod

Ghose

2015

JCDR

View full text Add to dashboard Cite

“…However, in their coordinate analysis, Kosaki et al reported a quantitative ®nding of particular relevance to the comparison of Schinzel phocomelia and Al-Awadi/Raas-Rothschild syndrome. The children described by Schinzel, Al-Awadi, and Raas-Rothschild all clustered in a phenotypic``zone'' that was also distinct from other phocomelic conditions, supporting the hypothesis by Lurie and Wulfsberg [1993] that all of these authors were describing the same condition [Al-Awadi et al, 1985;Raas-Rothschild et al, 1988;Schinzel, 1990]. Genuardi et al [1997] reported on an infant with limb-pelvis hypoplasia, but without evident skull defects, who had bilateral femoral and ®bular aplasia with normal long bones of the upper extremities.…”

Section: Discussionmentioning

confidence: 80%

“…Autosomal recessive inheritance has been proposed for Schinzel phocomelia syndrome, because some families (Table II) have included two affected sibs born to healthy parents, and there is one instance of parents who were ®rst cousins [Schinzel, 1990;Chitayat et al, 1993;Evliyaoglu et al, 1996]. Consanguinity has also been documented in most case reports of sibs with AlAwadi/Raas-Rothschild syndrome [Al-Awadi et al, 1985;Richieri-Costa, 1987;Raas-Rothschild et al, 1988;Camera et al, 1993;Farag et al, 1993;Teebi, 1993;Mollica et al, 1995;Genuardi et al, 1997]. However, the molecular basis of these disorders has not yet been explored.…”

Section: Discussionmentioning

confidence: 92%

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection

et al. 2001

View full text Add to dashboard Cite

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia.

show abstract

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

Cited by 53 publications

References 1 publication

Consanguinity and Dysmorphology in Arabs

Consanguinity and Dysmorphology in Arabs

Tetra-Phocomelia: The Seal Limb Deformity - A Case Report

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection

Contact Info

Product

Resources

About