Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

Guilherme, Romain; Baumann, Clarisse; Garel, Catherine; Huten, Yolène; Oury, Jean‐François; Delezoide, Anne‐Lise

doi:10.1002/ajmg.a.32380

Cited by 4 publications

(5 citation statements)

References 15 publications

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“…Finally, a search of the London Dysmorphology Database (http://www.lmdatabases.com/) and Possum 5.2 (http://www.possum.net.au/) yielded another possible diagnosis: a syndrome reported by Guilherme et al, [2008] presenting mainly early death, microcephaly, ambiguous genitalia, and brain abnormalities. Nevertheless, in the latter hypothesis, humero‐radial synostosis and specific dysmorphic facial features are also observed allowing differentiation between the two entities.…”

Section: Discussionmentioning

confidence: 69%

Preparation and thermal response behavior of poly(N‐isopropylacrylamide‐co‐a crylic acid) microgels via soap‐free emulsion polymerization based on AIBN initiator

Chen¹,

Jiang²,

Dan³

2011

J of Applied Polymer Sci

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Poly(N-isopropylacrylamide-co-acrylic acid) (poly(NIPAM-co-AA)) microgels with different copolymer compositions were prepared through soap-free emulsion polymerization at 80 C, and 2, 2 0 -azobisisobutyronitrile (AIBN) was used as initiator. Scanning electron microscope (SEM) characterization shows that the prepared microgels are regular and smooth and not easy to distort. Result of1 H-NMR characterization shows that with increasing of the initial concentration of AA (AA in feed), the AA content in polymer chains increases. The thermal response of microgels latex was investigated by UV-3010 spectrophometer through detecting the transmittance of the latex at different temperature in the range of 190-900 nm. The thermal response of the poly(NIPAM-co-AA) microgels was tested by dynamic light scattering (DLS). The results show that with the increase of AA content in polymer chains, the low critical solution temperature (LCST) of microgels latex first decreases and then increases. Still, with increasing of AA in poly(NIPAM-co-AA) microgels, the LCST of microgels first increases and then decreases. The basic reasons causing the changes of LCST of microgels latex and microgels are interpreted clearly in this article from the perspective of hydrogen bonding interaction.

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Section: Discussionmentioning

confidence: 69%

Preparation and thermal response behavior of poly(N‐isopropylacrylamide‐co‐a crylic acid) microgels via soap‐free emulsion polymerization based on AIBN initiator

Chen¹,

Jiang²,

Dan³

2011

J of Applied Polymer Sci

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“…The syndromes, which can have HRS as part of their spectrum, include those described by Antley and Bixler (); Ives and Houston (); Pfeiffer and Braun‐Quentin (); and Keutel, Kindermann, and Möckel (). Guilherme et al () reported two siblings with HRS and other anomalies, which appear to be a separate entity from any of the above syndromes. Al‐Hassnan and Teebi () categorized HRS into five groups: craniosynostosis, symphalangism, limb reduction, with other skeletal defects, and secondary teratogens.…”

Section: Discussionmentioning

confidence: 98%

Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

Bedard

Lowry

Sibbald

et al. 2017

American J of Med Genetics Pt A

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There is a wide range of the proportion of congenital anomalies associated with limb deficiencies reported in the literature. This variation is primarily attributed to methodology and classification differences. The distribution of associated anomalies among cases with congenital limb deficiencies in Alberta born between January 1, 1980 and December 31, 2012 is described. Of the 170 cases identified, most were live born (75.3%), male (61.8%), had longitudinal limb deficiencies (78.8%), and had associated anomalies outside the musculoskeletal system (77.6%). Significant associations between the preaxial longitudinal group and the central nervous, gastrointestinal, and cardiovascular systems are reported as well as between the postaxial longitudinal group and congenital hip and foot anomalies. Probable and possible syndrome diagnoses are described for cases with recognized malformation patterns.

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“…possum.net.au) yielded another possible diagnosis: a syndrome reported by Guilherme et al, [2008] presenting mainly early death, microcephaly, ambiguous genitalia, and brain abnormalities. Nevertheless, in the latter hypothesis, humero-radial synostosis and specific dysmorphic facial features are also observed allowing differentiation between the two entities.…”

Section: Discussionmentioning

confidence: 97%

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

Mégarbané

Chouery

Mignon-Ravix

et al. 2011

American J of Med Genetics Pt A

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We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)-array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed.

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Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

Cited by 4 publications

References 15 publications

Preparation and thermal response behavior of poly(N‐isopropylacrylamide‐co‐a crylic acid) microgels via soap‐free emulsion polymerization based on AIBN initiator

Preparation and thermal response behavior of poly(N‐isopropylacrylamide‐co‐a crylic acid) microgels via soap‐free emulsion polymerization based on AIBN initiator

Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

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