Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

Simonetta Rosato; Sheila Unger; Belinda Campos-Xavier; Stefano Giuseppe Caraffi; Laura Beltrami; Marzia Pollazzon; Ivan Ivanovski; Marco Castori; Maria Paola Bonasoni; Giuseppina Comitini; Peter G.J. Nikkels; Kristin Lindstrom; Christine Umandap; Andrea Superti-Furga; Livia Garavelli

doi:10.3390/genes13020261

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G.J. Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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Abstract

Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. We review the main diagnostic signs of OCS both before and after birth based on our observations and on the literature. We then review the current knowledge on the mutational spectrum of FAM111A associated with either OCS or KCS, including three novel variants, both from one of the OCS fetuses described here, and from further cases diagnosed at our centers. This report refines the previous knowledge on OCS and expands the mutational spectrum that results in either OCS or KCS.

Original language	English
Article number	261
Pages (from-to)	1-15
Journal	Genes
Volume	13
Issue number	2
DOIs	https://doi.org/10.3390/genes13020261
Publication status	Published - Feb 2022

Keywords

Asplenia
Cloverleaf skull
FAM111A
Gracile bone dysplasia
Hypoplastic spleen
Kenny-Caffey syndrome (KCS)
Microphthalmia
Osteocraniostenosis (OCS)
Humans
Pregnancy
Ultrasonography, Prenatal
Fetus/diagnostic imaging
Female
Hyperostosis, Cortical, Congenital/diagnosis
Craniofacial Abnormalities
Bone Diseases, Developmental/diagnosis
Infant, Newborn
hypoplastic spleen
microphthalmia
asplenia
osteocraniostenosis (OCS)
gracile bone dysplasia
cloverleaf skull

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10.3390/genes13020261Licence: CC BY

genes-13-00261-v2Final published version, 3.67 MBLicence: CC BY

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Rosato, S., Unger, S., Campos-Xavier, B., Caraffi, S. G., Beltrami, L., Pollazzon, M., Ivanovski, I., Castori, M., Bonasoni, M. P., Comitini, G., Nikkels, P. G. J., Lindstrom, K., Umandap, C., Superti-Furga, A., & Garavelli, L. (2022). Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Genes, 13(2), 1-15. Article 261. https://doi.org/10.3390/genes13020261

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title = "Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features",

abstract = "Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. We review the main diagnostic signs of OCS both before and after birth based on our observations and on the literature. We then review the current knowledge on the mutational spectrum of FAM111A associated with either OCS or KCS, including three novel variants, both from one of the OCS fetuses described here, and from further cases diagnosed at our centers. This report refines the previous knowledge on OCS and expands the mutational spectrum that results in either OCS or KCS.",

keywords = "Asplenia, Cloverleaf skull, FAM111A, Gracile bone dysplasia, Hypoplastic spleen, Kenny-Caffey syndrome (KCS), Microphthalmia, Osteocraniostenosis (OCS), Humans, Pregnancy, Ultrasonography, Prenatal, Fetus/diagnostic imaging, Female, Hyperostosis, Cortical, Congenital/diagnosis, Craniofacial Abnormalities, Bone Diseases, Developmental/diagnosis, Infant, Newborn, hypoplastic spleen, microphthalmia, asplenia, osteocraniostenosis (OCS), gracile bone dysplasia, cloverleaf skull",

author = "Simonetta Rosato and Sheila Unger and Belinda Campos-Xavier and Caraffi, {Stefano Giuseppe} and Laura Beltrami and Marzia Pollazzon and Ivan Ivanovski and Marco Castori and Bonasoni, {Maria Paola} and Giuseppina Comitini and Nikkels, {Peter G.J.} and Kristin Lindstrom and Christine Umandap and Andrea Superti-Furga and Livia Garavelli",

note = "Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2022",

month = feb,

doi = "10.3390/genes13020261",

language = "English",

volume = "13",

pages = "1--15",

journal = "Genes",

issn = "2073-4425",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "2",

}

Rosato, S, Unger, S, Campos-Xavier, B, Caraffi, SG, Beltrami, L, Pollazzon, M, Ivanovski, I, Castori, M, Bonasoni, MP, Comitini, G, Nikkels, PGJ, Lindstrom, K, Umandap, C, Superti-Furga, A & Garavelli, L 2022, 'Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features', Genes, vol. 13, no. 2, 261, pp. 1-15. https://doi.org/10.3390/genes13020261

TY - JOUR

T1 - Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns

T2 - Prenatal Ultrasound, Clinical, Radiological and Pathological Features

AU - Rosato, Simonetta

AU - Unger, Sheila

AU - Campos-Xavier, Belinda

AU - Caraffi, Stefano Giuseppe

AU - Beltrami, Laura

AU - Pollazzon, Marzia

AU - Ivanovski, Ivan

AU - Castori, Marco

AU - Bonasoni, Maria Paola

AU - Comitini, Giuseppina

AU - Nikkels, Peter G.J.

AU - Lindstrom, Kristin

AU - Umandap, Christine

AU - Superti-Furga, Andrea

AU - Garavelli, Livia

PY - 2022/2

Y1 - 2022/2

N2 - Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. We review the main diagnostic signs of OCS both before and after birth based on our observations and on the literature. We then review the current knowledge on the mutational spectrum of FAM111A associated with either OCS or KCS, including three novel variants, both from one of the OCS fetuses described here, and from further cases diagnosed at our centers. This report refines the previous knowledge on OCS and expands the mutational spectrum that results in either OCS or KCS.

AB - Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. We review the main diagnostic signs of OCS both before and after birth based on our observations and on the literature. We then review the current knowledge on the mutational spectrum of FAM111A associated with either OCS or KCS, including three novel variants, both from one of the OCS fetuses described here, and from further cases diagnosed at our centers. This report refines the previous knowledge on OCS and expands the mutational spectrum that results in either OCS or KCS.

KW - Asplenia

KW - Cloverleaf skull

KW - FAM111A

KW - Gracile bone dysplasia

KW - Hypoplastic spleen

KW - Kenny-Caffey syndrome (KCS)

KW - Microphthalmia

KW - Osteocraniostenosis (OCS)

KW - Humans

KW - Pregnancy

KW - Ultrasonography, Prenatal

KW - Fetus/diagnostic imaging

KW - Female

KW - Hyperostosis, Cortical, Congenital/diagnosis

KW - Craniofacial Abnormalities

KW - Bone Diseases, Developmental/diagnosis

KW - Infant, Newborn

KW - hypoplastic spleen

KW - microphthalmia

KW - asplenia

KW - osteocraniostenosis (OCS)

KW - gracile bone dysplasia

KW - cloverleaf skull

UR - http://www.scopus.com/inward/record.url?scp=85124105570&partnerID=8YFLogxK

U2 - 10.3390/genes13020261

DO - 10.3390/genes13020261

M3 - Review article

C2 - 35205306

AN - SCOPUS:85124105570

SN - 2073-4425

VL - 13

SP - 1

EP - 15

JO - Genes

JF - Genes

IS - 2

M1 - 261

ER -

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

Abstract

Keywords

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