| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
9 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SEQUENCING REVEALED A HOMOZYGOUS PATHOGENIC VARIANT (C.476DELG) IN THE PLOD1 GENE RESULTING IN A FRAMESHIFT MUTATION (P.GLY159VALFSTER68). |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
9 MONTHS |
| In Utero History Information |
| |
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| Birth History Information |
| |
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| Dysmorphic Features |
| |
|
| Additional Information: |
SLENDER HABITUS, MARFANOID IN APPEARANCE; PROMINENT FOREHEAD; BITEMPORAL HOLLOWING; |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
CENTRAL NERVOUS SYSTEM HEMORRHAGE; BRACHIAL PLEXUS INJURY; |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Scoliosis
|
| Additional Information: |
LOW TONE; KYPHOSCOLIOSIS; ARM INJURY; HYPEREXTENSIBLE; INCREASED FLEXIBILITY ON ALL JOINTS; |
| Developmental Milestones |
| |
|
| Additional Information: |
DIFFICULTIES WITH CRAWLING AND STANDING; CANNOT BEAR WEIGHT ON ARMS; |
| Gastrointestinal Symptoms |
| |
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| Genitourinary Symptoms |
| |
|
| Additional Information: |
URINE SCREEN SHOWED DEOXY-PRYIDINOLINE/PYRIDINOLINE RATIO MARKEDLY INCREASED |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
SENSITIVE SKIN; KERATOSIS PILARIS ON LEGS; |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI SHOWED ENLARGEMENT OF HEMORRHAGIC CAVITY ON RIGHT SIDE, MILDLY INCREASED SIZE OF THIRD AND LATERAL VENTRICLES; SPINE MRI SHOWED MILDLY THICKENED FRIABLE FATTY FILUM AT LUMBOSACRAL JUNCTION; BRACHIAL PLEXUS MRI SHOWS SLIGHT THICKENING OF RIGHT C7 PROXIMAL RADIUS AND RIGHT BRACHIAL PLEXUS TRACTION INJURY WITH POSTTRAUMATIC NEUROMA |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
|
| Surgeries |
BRACHIAL PLEXUS SURGERY |
| Medications |
| Family History |
| |
NO FAMILY HISTORY OF ELHERS-DANLOS SYNDROME; GRANDFATHER HAS A HISTORY OF SEIZURES; GRANDMOTHER HAS A HISTORY OF THYROID DISEASE |
| Remarks |
See "Phenotypic Data" Tab |