Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

被引：0

作者：

Nehla Ghedira

Arnaud Lagarde

Karim Ben Ameur

Sahar Elouej

Rania Sakka

Emna Kerkeni

Fatma-Zohra Chioukh

Sylviane Olschwang

Jean-Pierre Desvignes

Sonia Abdelhak

Valerie Delague

Nicolas Lévy

Kamel Monastiri

Annachiara De Sandre-Giovannoli

机构：

[1] University of Monastir,Research Unit 01/UR/08

[2] Aix Marseille University,14, Faculty of Medicine of Monastir

[3] INSERM,Department of Intensive Care and Neonatal Medicine

[4] GMGF,Departement of Medical Genetics

[5] Fattouma Bourguiba University Hospital,undefined

[6] Childrens’ Hospital La Timone,undefined

[7] Groupe Ramsay Générale de Santé,undefined

[8] Hôpital Clairval,undefined

[9] Institut Pasteur de Tunis,undefined

[10] Laboratoire de Genomique Biomedicale et Oncogenetique LR11IPT05,undefined

来源：

BMC Pediatrics | / 18卷

关键词：

Noonan syndrome; RAS-MAPK pathway; RAF1; Dysmorphism; Incontinentia Pigmenti; X-linked disorder; Comorbidity; Next generation sequencing;

D O I：

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摘要：

引用

共 30 条

[1] Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
Ghedira, Nehla
Lagarde, Arnaud
Ben Ameur, Karim
Elouej, Sahar
Sakka, Rania
Kerkeni, Emna
Chioukh, Fatma-Zohra
Olschwang, Sylviane
Desvignes, Jean-Pierre
Abdelhak, Sonia
Delague, Valerie
Levy, Nicolas
Monastiri, Kamel
De Sandre-Giovannoli, Annachiara
BMC PEDIATRICS, 2018, 18
[2] Incontinentia pigmenti (Bloch-Sulzberger syndrome): Report of case
Welbury, TA
Welbury, RR
JOURNAL OF DENTISTRY FOR CHILDREN, 1999, 66 (03): : 213 - +
[3] Incontinentia pigmenti/Bloch-Sulzberger syndrome: a case report
Nirmalasari, Dyah Ayu
Tabri, Farida
Waspodo, Nurelly
Rimayani, Sri
Adriani, Anni
ACTA DERMATOVENEROLOGICA ALPINA PANNONICA ET ADRIATICA, 2022, 31 (01): : 39 - 41
[4] Case report: Variability in clinical manifestations within a family with incontinentia pigmenti
Belysheva, Tatiana
Nasedkina, Tatiana
Kletskaya, Irina
Volchek, Dana
Barinova, Irina
Semenova, Vera
Gadzhigoroeva, Aida
Zelenova, Ekaterina
Valiev, Timur
Sharapova, Elena
Michenko, Anna
Allenova, Anastasiia
Ponomareva, Darya
FRONTIERS IN MEDICINE, 2024, 11
[5] Bloch-Sulzberger's syndrome (Incontinentia pigmenti). Contribution with a case report
Gonzalez Burgos, Lourdes
di Martino Ortiz, Beatriz
Rodriguez Masi, Mirtha
Knopfelmacher, Oilda
Bolla de Lezcano, Lourdes
ARCHIVOS ARGENTINOS DE PEDIATRIA, 2011, 109 (03): : E62 - E65
[6] Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
Sharawat, Indar Kumar
Panda, Prateek Kumar
JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2020, 11 (02) : 325 - 328
[7] X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report
Pereira, Marcela A. C.
Mesquita, Lismary A. de F.
Budel, Anelise R.
Cabral, Carolina S. P.
Feltrim, Amanda de S.
ANAIS BRASILEIROS DE DERMATOLOGIA, 2010, 85 (03) : 372 - 375
[8] Sleep disordered breathing in Noonan syndrome: a rare case report
Zaffanello, Marco
Prioli, Antonia Maria
Sacchetto, Luca
Gasperi, Emma
Bisceglia, Alfonso
Ghobert, Anna Ludovica
Piacentini, Giorgio
JOURNAL OF PEDIATRIC AND NEONATAL INDIVIDUALIZED MEDICINE, 2018, 7 (02): : 1 - 6
[9] Recurrent cellulitis and bacteremia in a patient with Noonan syndrome: A case report
Koike, Takayuki
Fukushiro, Michihito
Ueno, Ayaka
Nakashima, Shigeki
Yamakawa, Sho
Suda, Shota
Hayashida, Kenji
Yamasaki, Osamu
JOURNAL OF INFECTION AND CHEMOTHERAPY, 2024, 30 (06) : 548 - 551
[10] Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report
Mutmainah, Iffa
Nillesen, Willy M.
Mundhofir, Farmaditya E. P.
Winarni, Tri I.
van der Burgt, Ineke
Yntema, Helger G.
Faradz, Sultana M. H.
PAEDIATRICA INDONESIANA, 2016, 56 (01) : 62 - 66

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