Phenotype #0000309015
| Individual ID |
00417535 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
unclassified severe ciliopathy overlapping Pallister-Hall syndrome phenotype |
| Phenotype details |
18-week estimated gestational age (EGA) fetus of healthy unrelated parents, second pregnancy (firsth healthy boy), first trimester ultrasound unusual intestinal image; estimated risk for trisomy 21: 1/10,000; 14-week scan: polydactyly, malposition of the fingers; parents requested termination of pregnancy, female fetus delivered at 18 weeks; fetal karyotype and comparative genome hybridization on chorionic villi: normal 46,XX; postmortem examination: low-set posteriorly rotated ears, widely spaced eyes, broad nasal tip, anteverted nares, pseudocleft of the upper lip with multiple gingival frenula, retrognathia, a broad and edematous neck, short fingers with small nails, mesoaxial polydactyly with cutaneous syndactyly of the left fourth and fifth fingers, left foot preaxial polydactyly and cutaneous syndactyly toes five to seven on the left and toes three to four on the right, external genitalia abnormal with a small genital tubercle and unfused genital swelling and an imperforate anus; autopsy: retro-esophageal right subclavian artery without heart malformation, laryngeal cleft, bilateral renal agenesis, abnormal internal genitalia with ovaries, residual hemi-uterus, no vagina and blind rectum; pancreas hypertrophic and dysplastic with fibrosis and dilated ducts; liver: bile duct proliferation; dysplasia of the pancreas with dilated ductal structures; placenta normal; radiograms: short tubular bones consistent with 16-week EGA including bilateral shortening of the tibia, segmentation abnormalities of sacral vertebrae, a trident appearance of the acetabular roof, narrow chest with short ribs and distal limbs abnormalities compatible with the clinical examination; brain: normal, without hypothalamic hamartoma |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| 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 |
2022-09-19 11:48:41 +02:00 (CEST) |
| Date last edited |
N/A |
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