Phenotype #0000302361
| Individual ID |
00410256 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay |
| Phenotype details |
Birth weight 2505 g (-2.5 standard deviations, SD), head circumference: 33 cm (-1.3 SD); bilateral coloboma of the iris and fundus and opacification of the inferior nasal part of the cornea; 2 months: right-sided inguinal hernia surgically corrected; one month later hospitalisation because of feeding difficulties and a laryngomalacia was diagnosed by laryngotracheobronchoscopy. 3m3w: length 58.5 cm (-2.3 SD), head circumference 36 cm (-2.5 SD); 80 dB mixed hearing loss of the left ear, 11 pairs of ribs with a hypoplastic first rib (left side more pronounced than right side), a sacral dimple and hypertonia; cerebral magnetic resonance imaging, cardiac and renal ultrasound, metabolic screening (including creatine kinase): normal; intra-uterine infections, especially cytomegalovirus infection: excluded; last examination: 9 months old, despite continuing feeding problems, catch-up growth with a length of 71 cm (-0.9 SD); microcephaly severely progressive - head circumference of 39.2 cm (-5.0 SD) with plagiocephaly; craniosynostosis excluded by X-ray examination; nystagmus with severe visual impairment, axial hypotonia with head lag, hypertonia of limbs and developmental delay were noted during neurological examination; no directive movements or visual pursuit; clinical episodes of suspected convulsions, electroencephalography: no signs of epilepsy |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
10m |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-22 20:24:19 +02:00 (CEST) |
| Date last edited |
N/A |
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