Craniosynostosis in hyper-IgE-syndrome

Höger, P.; Boltshauser, Eugen; Hitzig, W. H.

doi:10.1007/bf00441793

Cited by 53 publications

(33 citation statements)

References 6 publications

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“…The condition has been associated with a variety of skeletal findings, including growth retardation, severe osteoporosis, and osteogenesis imperfecta [Hoger et al, 19851. Four instances of craniosynostosis have been reported [Hoger et al, 1985;Smithwick et al, 19781. To date, all patients have been male. The cause is unknown.…”

Section: Hyper-lge Syndrome and Craniostenosismentioning

confidence: 99%

Craniosynostosis update 1987

1988

Am. J. Med. Genet.

136

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Section: Hyper-lge Syndrome and Craniostenosismentioning

confidence: 99%

Craniosynostosis update 1987

1988

Am. J. Med. Genet.

136

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“…Eighty-eight percent have an increased interalar distance (nasal width) and 65% have a high arched palate. Craniosynostosis has been previously reported in HIES (49)(50)(51), and has been seen at the NIH in one patient.…”

Section: Disorders Characterized By Excessive Ige Productionmentioning

confidence: 70%

Immunoglobulin E in primary immunodeficiency diseases

Grimbacher

Belohradsky²,

Holland

2002

Allergy

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“…Heterozygous STAT3 mutations are associated with autosomal dominant hyper IgE syndrome (ADHIES), a primary immune deficiency. Craniosynostosis has been described in 4 ADHIES cases [Smithwick et al, 1978;Hoger et al, 1985]. Homozygous mutations in the interleukin 11 receptor alpha gene (IL11RA) were also identified in a family with Crouzon-like craniosynostosis [Keupp et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Rivera‐Pedroza¹,

Barraza-García²,

Paumard‐Hernández

et al. 2016

Mol Syndromol

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Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developmental delay, seizures, round face with a prominent nose, micro/retrognathia, half-opened mouth, short neck, hand/foot malformations, hernia, congenital heart malformations, and abnormal external genitalia. The deletion spanned ∼18.6 Mb and included a total of 68 OMIM protein coding genes. We have reviewed 17 cases previously described in the literature and in DECIPHER involving the chromosomal region 1p31.1p31.3. Only 3 of these affect the whole region, 9 are partial deletions of this region, and 5 are much smaller deletions. Taking into account the MORBID ID and the haploinsufficiency score of the genes, we go on to propose which genes may explain particular clinical features observed in the patient. IL23R may be responsible for the craniosynostosis, FOXD2 for the renal anomalies, LHX8 for closure defects of the palate, and ST6GALNAC3 for skin anomalies. In summary, we have identified a chromosome 1p31.1p31.3 deletion in a patient with an atypical presentation of craniosynostosis amongst other more typical features observed in individuals with similar deletions.

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Craniosynostosis in hyper-IgE-syndrome

Cited by 53 publications

References 6 publications

Craniosynostosis update 1987

Craniosynostosis update 1987

Immunoglobulin E in primary immunodeficiency diseases

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

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