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Welcome to the first of our E-newsletters initiative from FMFI to disseminate the latest research on specific topics of interest.

The FMF India aims to collaborate in research and academic activities and promote and standardise antenatal care for all pregnant women in India.

The topic we chose for the first newsletter is “Skeletal Dysplasias” – a complex clinical enigma that continues to baffle the medical fraternity owing to varied presentation, wide genetic causes, and an uncertain prognosis. This newsletter is a collective effort from the bright and young minds across the country to discuss the prenatal and postnatal management of a suspected or diagnosed case of skeletal dysplasia. We also hope we inspire ourselves to promote research in the areas that remain unanswered and demand more thought and reasoning from the clinicians.

We hope the readers will find the newsletter helpful and incorporate the summarised algorithms in their daily practice.

Editor-In -Chief : Rachna Gupta
E-newsletter Editor : ChinmayeeRatha
Editorial Team : Anita Kaul and Akshatha Sharma
Contributors : Navya K C, Aditi Goundan, Shagun Aggarwal, Bikramjit Das, Vikram N S, Sumitra Bachani

Postnatal evaluation and management of a case of suspected skeletal dysplasia

Introduction: Skeletal dysplasia are a heterogenous group of disorders which affect the natural development of skeletal system and manifest as abnormalities of limbs, chest, skull or spine. These are genetic diseases which result in abnormal formation of chondro-osseous tissues. Their prevalence varies from 1:5000 to 1:3000 births with such wide variation primarily because of incomplete evaluation of still births and early neonatal deaths in several studies (1). These disorders contribute to a significant proportion of still births and early neonatal deaths, however several of them have.

BINDER PHENOTYPE:Decision Making at a Tough Crossroad

Vikram N S, Savita shirodkar, SrimathyRaman, Lathavenkataram Fellow in Foeto-Maternal medicine, 2 Consultant, 3Director, South Bangalore Obstetrics and Gynaecology Doctors and associates (SBOGYN team), Rangadore Memorial Hospital, Bangalore- A Unit of Sri Sringeri Sharada Peetam Charitable Trust, (Affiliated to RGUHS, Karnataka) Introduction Binder phenotype with stippling results in hypoplasia of the nasal pyramid (also called maxillonasal dysplasia).If other anomalies are visible, the risk that Binder syndrome is part of another syndrome is high. Curry et al.in 1993.first published.

A case of timely prenatal testing of current pregnancy based on evaluating an index case with uncertain diagnosis.

Authors: Dr Sumitra Bachani, Dr Suchandana Dasgupta (Professor & Senior Specialist, NBE Fellow Maternal-Fetal Medicine Vardhman Mahavir Medical College & Safdarjung Hospital ) Introduction: There are more than 400 known types of generalized skeletal dysplasia. The estimated prevalence is 2-7 in 10,000 live births.1 The genetic etiology of an increasing number of cases with skeletal dysplasia is now known, making an early diagnosis possible. In the case of a previously affected pregnancy witha definitive geneticdiagnosis,prenatal genetic testing can thenbe offered. Inheritance.

Genetic Diagnostic approach in Fetal Skeletal dysplasias

Shagun Aggarwal,MD OBG,DM Medical Genetics Additional Professor, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad Adjunct Scientist, Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad. email:shagun.genetics@gmail.com Introduction Skeletal dysplasias are a group of >400 genetic diseases affecting the developing chondro-osseous tissue and resulting in short stature, bony deformities and other co-morbidities.Of these, at least 100 disorders can present prenatally, usually in the form of short bones—detailed.

Prenatal ultrasonographic approach to skeletal dysplasia: Practical tips

What is the ideal time to look for the skeletal dysplasia? The long bones, vertebrae and calvarium begin ossifying by 12 weeks, so the presence of certain skeletal dysplasias especially the lethal ones can be suggested as early as the first trimester. When should we suspect for skeletal dysplasia? Any fetus showing femoral length (FL) or humerus length (HL) measurements less than 5th centile or −2 SD from the mean at all gestations should be evaluated. Table 1: Checklist to approach to the skeletal dysplasias. Gestational age based on LMP or first trimesterultrasound.

TRIVIA

Little People of America (LPA) is a nonprofit organization that provides support and information to people of short stature and their families.LPA is dedicated to improving the quality of life for people with dwarfism throughout their lives while celebrating with great pride Little People’s contribution to social diversity. LPA strives to bring solutions and global awareness to the prominent issues affecting individuals of short stature and their families. The Osteogenesis Imperfecta Federation Europe (OIFE) is an umbrella association for organizations dealing with the rare.

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Newsletter

Postnatal evaluation and management of a case of suspected skeletal dysplasia

BINDER PHENOTYPE:Decision Making at a Tough Crossroad

A case of timely prenatal testing of current pregnancy based on evaluating an index case with uncertain diagnosis.

Genetic Diagnostic approach in Fetal Skeletal dysplasias

Prenatal ultrasonographic approach to skeletal dysplasia: Practical tips

TRIVIA

Join Us

Become a FMF India Member

Contact Us

Join Us