Report of a case of Raine syndrome and literature review

被引：21

作者：

Seidahmed, Mohammed Zain ^{[1
]}

Alazami, Anas M. ^{[2
]}

Abdelbasit, Omer Bashir ^{[1
]}

Al Hussein, Khalid ^{[1
]}

Miqdad, Abeer M. ^{[1
]}

Abu-Sa'da, Omar ^{[1
]}

Mustafa, Tareq ^{[3
]}

Bahjat, Sarah ^{[4
]}

Alkuraya, Fowzan S. ^{[2
,5
]}

机构：

[1] Secur Forces Hosp, Dept Pediat, Div Neonatol, Riyadh, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[3] Secur Forces Hosp, Dept Radiol, Riyadh, Saudi Arabia

[4] Secur Forces Hosp, Dept Obstet & Gynecol, Riyadh, Saudi Arabia

[5] Al Faisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 10期

关键词：

Raine syndrome; osteosclerosis; intracranial calcification; hypoplastic nose; exophthalmos; pachygyria; OSTEOSCLEROTIC BONE DYSPLASIA; INTRACRANIAL CALCIFICATION; FAM20C; MUTATIONS; DELINEATION;

D O I：

10.1002/ajmg.a.37159

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases. (c) 2015 Wiley Periodicals, Inc.

引用

页码：2394 / 2398

页数：5

共 50 条

[1] A case of Raine syndrome presenting with facial dysmorphy and review of literature
Sheth, Jayesh
Bhavsar, Riddhi
Gandhi, Ajit
Sheth, Frenny
Pancholi, Dhairya
[J]. BMC MEDICAL GENETICS, 2018, 19
[2] A CASE REPORT OF NON LETAL RAINE SYNDROME
Papizh, Svetlana
[J]. PEDIATRIC NEPHROLOGY, 2018, 33 (10) : 1878 - 1879
[3] Raine syndrome: report of a case with hand and foot anomalies
Mahafza, T
El-Shanti, H
Omari, H
[J]. CLINICAL DYSMORPHOLOGY, 2001, 10 (03) : 227 - 229
[4] Chilaiditi Syndrome: a Case Report and Literature Review
Rego Avila, Heidy
Delgado Rodriguez, Ariel
Viton Castillo, Adrian Alejandro
[J]. FINLAY, 2020, 10 (03): : 325 - 329
[5] THE KEUTEL SYNDROME - REPORT OF A CASE AND REVIEW OF THE LITERATURE
ZIEREISEN, F
DEMUNTER, C
PERLMUTTER, N
[J]. PEDIATRIC RADIOLOGY, 1993, 23 (04) : 314 - 315
[6] Intersection syndrome: A case report and review of the literature
Hanlon, DP
Luellen, JR
[J]. JOURNAL OF EMERGENCY MEDICINE, 1999, 17 (06): : 969 - 971
[7] SJOGRENS SYNDROME - REVIEW OF LITERATURE AND REPORT OF A CASE
KENNY, FE
LONG, JE
[J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1954, 155 (05): : 435 - 437
[8] Netherton syndrome: A case report and review of the literature
Sun, Joannie D.
Linden, Kenneth G.
[J]. INTERNATIONAL JOURNAL OF DERMATOLOGY, 2006, 45 (06) : 693 - 697
[9] PICKWICKIAN SYNDROME - A REVIEW OF LITERATURE AND REPORT OF A CASE
WARD, WA
KELSEY, WM
[J]. JOURNAL OF PEDIATRICS, 1962, 61 (05): : 745 - +
[10] SKEETER SYNDROME A CASE REPORT AND LITERATURE REVIEW
Garcia, D. D.
Gonzalez-Diaz, S.
Arias-Cruz, A.
Buenfil-Lopez, J. A.
Gallego-Corella, C. I.
Mejia-Salas, K.
Dominguez-Sansores, L.
Calva-Marino, M.
[J]. ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2011, 107 (05) : A77 - A77

← 1 2 3 4 5 →