A Term Male Neonate with Achondroplasia and Persistent Pulmonary Hypertension: A Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2015, Vol 3, Issue 8
Abstract
Abstract: Achondroplasia is the most common non lethal variant of chondrodysplasia with birth prevalence of 1 in 15,000 to 40,000 births. These results from autosomal dominant inheritance although de novo mutations in the Fibroblast growth factor 3 (FGFR3) genes are responsible in majority of the cases. There exists a strong correlation between the site of mutation and the clinical phenotype. The phenotypic features of achondroplasia are often evident at birth, and the diagnosis is unparalleled. Proximal (rhizomelic) shortening of the extremities, trident hand, and midfacial hypoplasia with large head are distinct phenotypic features. Similarly there are unique radiological features like flaring and cupping of tubular bones, square shaped iliac wings with flat acetabulum and narrow caudal interpedicular distance. A 3500grams, 38weeks male neonate was born by elective c-section to a 3rd gravid. There was respiratory distress soon after birth for which the infant required ventilatory support. Antenatal ultrasound revealed polyhydramnios, rhizomelic shortening of the limbs, large head and small chest. Previous female sibling died at 24 hours of life with respiratory distress, dysmorphic facies & short limbs (probably achondroplasia) and mother also had a 2nd trimester abortion. The neonate had characteristic features of achondroplasia like proximal shortening of the limbs, excess skin creases, large head, small chest, micrognathia, short stubby fingers along with trident hand. Facial profile revealed depressed nasal bridge, hypertelorism, short tongue. The neonate had persistent pulmonary hypertension without pulmonary hypoplasia was treated for the same. The chromosomal analysis revealed common G1138A mutation in the FGFR3 located on chromosome 4p16.3. We report a term, male neonate with rhizomelic dwarfism with facial dysmorfisim suggestive of achondroplasia which was confirmed by chromosomal analysis. Keywords: Achondroplasia, Fibroblast growth factor 3, neonate, persistent pulmonary hypertension, rhizomelic shortening, trident hand.
Authors and Affiliations
Dr. A. Soumya, Dr. Swathi Chacham, Dr. U. Narayan Reddy, Dr. Faraaz Adil, Dr. Burli prithvi, Dr. J. Ravi kiran, Dr. Naila Mazher
Keywords
Related Articles
- EP ID EP377148
- DOI -
- Views 62
- Downloads 0
Video Assisted Thoracoscopic Surgery (VATS) for Iatrogenic Thoracic Injury: A Case Series
Abstract: The role of VATS is still being defined in the management of thoracic trauma. We report three cases of iatrogenic thoracic injury managed at our hospital via VATS. The first patient is a 35-year old man who dev...
A case of Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. In most cases, it is caused by chronic, uncontrolled activation of the comple...
Cerebral Venous Thrombosis Revealing Celiac Disease: A Rare Case Report
Celiac disease (CD) is a systemic, chronic autoimmune disease. CD can present with or without gastrointestinal manifestations. Cases of venous thrombosis associated with celiac disease have been rarely published. We repo...
An Unusual Location of a Voluminous Epithelial–Myoepithelial Carcinoma in Nasal Cavities: A Case Report
Epithelial–myoepithelial carcinoma is an uncommon and low-grade malignant tumor, arisen most frequently in the salivary glands. It represents 1% of malignant tumors of salivary glands. The extraoral location is rarely re...
A Case of Glycogen Storage Disease: A Case Report and Review of Literature
Glycogen is the principal storage form of glucose in muscle and liver. Enzyme deficiencies lead to glycogen accumulation in liver, skeletal muscle, and heart. There are eleven subtypes of disease that are commonly includ...