Phenotype #0000308369
| Individual ID |
00045130 |
| Associated disease |
MCLMR |
| Inheritance |
Isolated (sporadic) |
| Phenotype details |
3m-prediagnosis of retinoblastoma - right eye enucleated and fitted with a prosthetic eye; right eye revealed diffuse retinal detachment and subretinal hemorrhage; 1y: atypical facial appearance; birth weight, length, and head circumference: 3,230 g (-0.5 SD), 50 cm (-0.06 SD), and 30.1 cm (-2.5 SD), respectively; postnatal echocardiography: perimembranous ventricular septal defect; bilateral edema of the dorsum of the feet - lymphoscintigraphy: no evidence of tracer uptake in the inguinal lymph nodes or lymphatic tracts confirming the primary lymphedema, characteristic of the functional aplasia typically observed in MCLMR; presented with microcephaly (occipital-frontal head circumference (OFC): 38 cm, -6.7 SD), prominent ears, upslanting palpebral fissures, a broad nose with a rounded tip, anteverted nares, long philtrum with a thin upper lip, a high-arched palate, microretrognathia, and congenital lymphedema of the feet; achieved head control, sitting, and walking at 2, 8, and 12 months, respectively; complete blood count, calcium metabolism, thyroid functions, immunoglobulins and T-lymphocyte subsets: normal; echocardiography: detected spontaneous closure of the ventricular septal defect; venous Doppler: no venous insufficiency in the lower extremities; cranial magnetic resonance imaging: microcephaly without any structural abnormalities; fundoscopy, left eye: pale optic disc and lacunar chorioretinal atrophy; electroretinography: generalized rod-cone dysfunction; hearing test: normal; 6y: developmental quotient of Denver II Developmental Test: 60; hyperactive behavior and attention problems, but he could speak fluently in long sentences by the age of 6; followed up regularly, during that time growth parameters (height and weight) normal; 8y: his weight and length were 20 kg (-1.89 SD) and 122 cm (-1.04 SD), respectively; OFC 45 cm (-5.3 SD); left fundus findings unchanged; low visual acuity: counting fingers from 2 meters; optical coherence tomography: severe retinal thinning; bilateral lymphedema remained more pronounced on the right foot |
| Diagnosis/Initial |
del 22q11.2;MCLMR |
| Age/Examination |
08y (8 years) |
| Diagnosis/Definite |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| Age/Diagnosis |
- |
| Age/Onset |
00y00m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Anna Tracewska |
| Database submission license |
No license selected |
| Created by |
Anna Tracewska |
| Date created |
2022-09-08 13:55:23 +02:00 (CEST) |
| Date last edited |
2022-09-08 15:29:40 +02:00 (CEST) |
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