Phenotype #0000304594
| Individual ID |
00412602 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
ciliopathy with functional growth hormone deficiency and early growth retardation |
| Phenotype details |
born at 42 weeks; hospitalised 3 days due to respiratory distress; slow to feed but did not require tube feeding or develop hypoglycemia, discharged on Day 5; no family history, three healthy siblings. 17m: short stature and obesity despite difficulty with weaning and feeding, body mass index high despite taking only 25 mL/kg/d of milk and minimal solids; midfacial hypoplasia, depressed nasal root, a single palmar crease, left-sided clinodactyly, and one small ( 0.5 cm) cafe-au-lait patch on the back; no evidence of microcephaly or genital abnormalities; 13.9 kg; length 75.4 cm (-2.3 SDs) and a body mass indexof24.4(+4.0 SDs); motor and personal skills delayed; language delay and poor attention noticed by the age of 3y but subsequently improved.; thyroid function tests age 1y normal; persisting, proportionate short stature at age 3.6 years, serum IGF-I was measured, ranging from 8-17 ng/mL (reference range, 40-100 ng/mL); arginine/ACTH stimulation test (0.5 g/kg arginine; 250 mcg synacthen): a peak GH level of 7.5 ng/mL and peak cortisol of 43.7 g/dL; LHRH stimulation test (100 mcg LHRH): basal levels of LH and FSH of 0.1 mIU/mL and 0.4 mIU/mL increasing to 2.7 mIU/mL and 1.9 mIU/mL, respectively, at 60 minutes; IGF-I generation test (25 mcg/kg GH once daily for 3 d): increase in serum IGF-I from 22 to 57 ng/mL; a trial of recombinant human growth hormone (rhGH) therapy (0.5 mg once daily[0.03 mcg/kg/d]) age 4 years, treatment continued as he displayed a good growth response with an increase in height velocity from 4.6 to 8.5 cm per year; 5y: magnetic resonance imaging (MRI) brain scan: anterior pituitary hypoplasia and an ectopic posterior pituitary gland, repeated 14.5y - no significant change, anterior pituitary continued to remain small despite normal entry and progress through puberty, repeat ACTH stimulation test at age 14.5 years: a peak cortisol of 26.6 g/dL at 60 minutes. 5y: bilateral knee pain and a waddling gait, and a skeletal survey showed marked metaphyseal dysplasia of the hips as well as some evidence at the knees and ankles without the presence of any other skeletal abnormalities such as cone shaped epiphyses; 9y: bilateral coxa vara and progressed to bilateral femoral osteotomy following a stress fracture of his right femoral neck; despite a normal ophthalmological examination and electroretinogram at 1y, by 9y he had increasing difficulty with vision, particularly at night; repeat electroretinogram demonstrated a retinopathy of his rods and cones; 11y: hypertension; ultrasound and dimercaptosuccinic acid radionuclide kidney scan: discrepancy in the size of his kidneys (right kidney, -1.2 SDs; left kidney, +0.5 SDs) and loss of cortical medullary differentiation but no scarring or difference in uptake; renal function deteriorated and at age 14y required hemodialysis, progressing to renal transplantation |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| 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 |
2022-07-01 18:29:37 +02:00 (CEST) |
| Date last edited |
N/A |
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