Phenotype #0000015308
| Individual ID |
00016942 |
| Associated disease |
NLS1 |
| Phenotype details |
born preterm 29w after an uneventful vaginal
delivery. Antenatal ultrasounds at both 19 and 24w of gestation showed polyhydramnios, curved vertebrae,
protruded eyes, an open mouth, low-set ears, a short and broad neck, microcephaly, generalized skin edema (especially of the trunk and scalp), abnormally flexed hands,
extended crossed feet with a rocker-bottom appearance, and fetal akinesia. Postnatal screening for congenital infection was inconclusive. Postnatal examination revealed
massive body swelling and marked disfigurement of the
face and limbs, which appeared engulfed by a thin and
shiny membrane (Figure S1B). The eyes were small, fixed,
and widely spaced and showed supraorbital massive cystic
swelling bilaterally. The nose was completely flat and obliterated,
and the mouth was large and fixed open with
massively swollen lips. The neck was extremely short.
The ear lobules were edematous with tight overlying
skin. The trunk was short and shiny with visible veins.
The baby exhibited a fixed-flexion appearance with generalized
contractures. The massively edematous hands and
feet had no discernible digits. A skeletal survey showed
defaced and overlapping cranial bones with severe softtissue
edema. Thoracic, vertebral, pelvic, and other tubular
bones had no major skeletal defects |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
00y00m00d () |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Marianne Vos (LOVD-team) |
| Database submission license |
No license selected |
| Created by |
Marianne Vos (LOVD-team) |
| Date created |
2014-06-08 15:27:13 +02:00 (CEST) |
| Date last edited |
2016-06-19 12:08:30 +02:00 (CEST) |
|
