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 69
- Downloads 0
Septic Arthritis of the Pubic Symphysis in Post-Partum: A Case Report
Septic arthritis of the pubic symphysis is a rare and exceptional postpartum infection that accounts for less than 1% of all septic hematogenous osteoarthritis. We report a case of a patient presenting with postpartum pu...
The Cadaveric Study on the Prevalence of Meckel’s Diverticulum in Southern Nigeria
Meckel’s diverticulum is the most common congenital malformation of the gastrointestinal tract but occurs infrequently in the different population of the world. This study was carried out to determine the prevalence, mor...
A Unique Technique of Removal of Esophageal Foreign Body: Using Urological Dormia Basket
Abstract: Esophageal foreign body impaction is a common finding in patients operated for trachea-esophageal fistula. It occurs mainly due to stricture occurring at the anastomotic site. A 4 year old girl with dysphagia h...
Rare Cases of Hide Bound Disease With Dental Implications
Abstract: Scleroderma or Hide bound disease is a rare autoimmune disease of the connective tissue characterized by fibrosis and thickening of various tissues. Prevalence of the disease is approximately 2.7 cases per 100,...
A case of essential thrombocythemia complicated with spontaneous chest wall hematoma
Abstract:A 66-year-old female noticed right thoracic back pain when she woke up in the morning in 5 days. This gradually deteriorated and called an ambulance. She did not have any episode of trauma. She had a history of...