Introduction Mohr syndrome, or Orofaciodigital syndrome type II (OFD2), represents a very rare genetic disorder in which there is a triad of craniofacial anomalies, oral malformations, and digital deformities. While classic findings such as lobulated tongue, cleft palate, and broad nasal root mainly remain in the domain of pediatricians and…
Category: Case Reports
Medical case reviews and peer comments, discussions and hot debates, Spot medical case diagnosis and interesting case pictures and videos.
Case Reports
A case of EA/TOF (esophageal atresia/tracheoesophageal fistula)
Case summary A female neonate was born via emergency cesarean section at 36 weeks of gestation. The indication of LSCS was polyhydramnios with fetal bradycardia. The birth weight of the neonate was 1700 grams following which the baby was shifted to NICU for observation. I, as a surgical resident was…
Case Reports
A Complication following vasectomy and its management
Case Summary A 45-year male presented to emergency with complaints of pain and swelling over scrotum for 10 hours (at around 11:00 pm). Upon further inquiry he had undergone vasectomy (no scalpel) at a local health post camp at around 1 pm on the same day. He had no known…
Case Reports
Nine Interesting cases in Neonates
1. Sepsis presenting with Diabetic ketoacidosis like feature in Preterm neonate A thriving preterm neonate had new onset sepsis with off color skin and poor feed tolerance. A workup for sepsis was sent and antibiotics were upgraded to 2nd line agents. Inotrope was added for tachycardia with poor perfusion. By…
Case Reports
A case of child with Mucopolysaccharidosis : Hunter Syndrome
1st Published in Pedchrome in January 1, 2015 Case Summary A 6-year-old patient was found to have course facial features and short stature. Parents have noticed a developmental stasis since 4-5 years of age. The weight was normal. There were no any chronic illness, any significant birth and postnatal history…
Case Reports
Ectrodactyly or Lobster-claw syndrome : A Case Report
Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of…
Case Reports
A Case of Neonatal Umbilical Infection leading to Septic Shock
Case report A Preterm neonate of 33 weeks gestation deteriorated on day 2 with septic shock and decreased urine output rapidly over 12 hours. Baby was pale and CRT was prolonged. A Workup was sent and empirical antibiotics were started. Baby needed Inotrope support and improved over next 24-48 hours….
Case Reports
Partial Exchange transfusion for Neonate with Polycythemia
A Late preterm, 36 weeks by gestation and small for gestation age was delivered via Cesarean section for Oligohydramnios. At birth the Apgar was 9/10, 9/10 and the baby was shifted to mother side and planned for Sugar monitoring. Hemoglobin and Packed cell volume was sent at 2 hours.Baby was…