alexa Perinatal Lethal Hypophosphatasia: Fetopathological Findings In Three Cases | 72821
ISSN: 2165-7920

Journal of Clinical Case Reports
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

5th European Conference on Clinical and Medical Case Reports

Sihem Darouich, Nadia Boujelbène, Souhir Bouzguenda, Dhikra Kacem, Radhia Ben Ghorbel, Karima Mrad and Aida Masmoudi
University of Tunis El Manar, Tunisia
Posters & Accepted Abstracts: J Clin Case Rep
DOI: 10.4172/2165-7920-C1-012
Abstract
Hypophosphatasia is a rare skeletal dysplasia, related to inactivating mutations in the TNSALP gene encoding the tissue-nonspecific alkaline phosphatase. This enzyme deficiency mainly results in disorders of bone and teeth mineralization. The phenotypic spectrum ranges from perinatal lethal to mild form diagnosed in adulthood. We describe the lethal form in three affected fetuses, one female and two males. Antenatal ultrasound detected micromelia and generalized demineralization. Termination of pregnancy was performed at 18, 22 and 25 weeks of amenorrhea. Skeletal radiographs showed irregular ossification in all cases, that was very poor with only few mineralized bones in two cases, and associated with bowing of the long bones and large, irregular metaphyses in one case. Macroscopic examination showed micromelia, bowing of the limbs and a characteristic craniofacial dysmorphism including relative macrocrania, hypertelorism, small nose with anteverted nostrils, long philtrum, thin lips, miroretrognathia and low-set ears. Bilateral tibial or tibio-peroneal spurs were observed in two cases. The histology disclosed the presence of columns of hypertrophic chondrocytes invading the diaphysis. In conclusion, perinatal hypophosphatasia is characterized by severe micromelia and major deficit or complete absence of the bone mineralization. It is often confused with osteogenesis imperfecta on prenatal ultrasound. However, the 3D ultrasound can detect the characteristic bone spurs in the early second trimester and strongly orient the diagnosis towards lethal hypophosphatasia. The diagnosis is confirmed by detailed fetopathological examination including skeletal radiography, macroscopic examination and histological study of longs bones. Genetic counseling can be offered with genetic testing to parents.
Biography

Sihem Darouich, MD, is a Fetopathologist at the University Hospital Habib Bougatfa of Bizerte and Professor at the Department of Histology and Embryology, Faculty of Medicine of Tunis, Tunisia. Over the last several years, she has focused on fetal genetic syndromes, especially syndromic multicystic renal dysplasia and skeletal dysplasias. She is a member of the French Society of Fetopathology (SoFFoet) and of an editorial board of a reputed international journal.

image PDF   |   image HTML
 

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

+1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7