PedAM
Pediatric Disease Annotations & Medicines
| Disease | lipoma |
| Phenotype | C0011649|dermoid |
| Sentences | 1 |
| PubMedID- 19838731 | In summary, the key features in our patient included (1) type 2 caudal regression consisting of partial sacral agenesis (presence of only s1–s2 vertebrae and a residual s3 vertebral body) and total coccygeal agenesis; (2) sacral intra- and pre-canalicular dermoid associated with an intra-canalicular lipoma and a tethered cord; (3) severe congenital microcephaly (39.5 cm at age 3 years) with a normal gyral pattern and normal cortical thickness on mri; (4) inferior cerebellar vermis hypoplasia; (5) bilateral sensorineural hearing loss; (6) facial anomalies including hypotelorism, bilateral hypoplasia of the lateral aspect of the eyebrows, right ptosis, prominent upper mandibula and normal dentition (besides single central incisors); (7) small hands with short thumbs; and (8) isolated somatomedin c deficiency. |
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