Infant female was diagnosed with anisocoria. "cornea of reduced size, anterior chamber nearly absent, anomalous iris marking, miotic pupil" were found in Ophthalmologic examination. Gonioscopy examination revealed posterior embryotoxon in both eyes, and bilateral "fibrous lobes" in the anterior chamber angle. There were also other anomalies found in the right eye.
21-month-old female who was born at almost 29 weeks weighing only 650g and with birth height of 31 cm. Her major problems have been poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and subsequently, food administration through a direct gastric tube via a gastrostomy. She gradually gained weight to the extent of being overweight for her height. Laboratory evaluation revealed low absolute numbers of neutrophils low lymphocyte count. Endocrynology and Genetics workup were normal.
1-month-old female with Microtia of the right ear, which is a single finding and not part of a syndrome. Hearing test is recommended.
The patient is a 21 month old female who was born prematurely (at almost 29 weeks) weighing only 650g. She was released after 3 months from NICU, when she was 41 weeks old, weight 2kg. Her parents did not have any problems till she was 5 months old. Her major problems since have been: poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and later, food administration through a direct gastric tube via a gastrostomy.
10 months old, female. After normal birth (at the 40th week of pregnancy) and neonatal period, started to suffer from gastroesophageal reflux and recurrent respiratory infections, at times with broncospasm. In addition, psychomotor retardation was found and the young patient was assessed by a neurologist. The tests run (EMG and genetics for SMA) pointed to the diagnosis of Spinal Amyotrophy.
After hospitalization due to catarrhal bronchitis, the patient was discharged in good general conditions with recomendations for respiratory physiotherapy and neurological rehabilitation.
