| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
18 MO |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
EXOME ANALYSIS REVEALED A HOMOZYGOUS MUTATION IN COL6A2 AT POSITION 21:47540981: C.1402C>T (P.ARG468TER), RS374669775, HG19 |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| In Utero History Information |
| |
|
| Additional Information: |
FETAL MOVEMENTS LESS ACTIVE COMPARED TO TWIN BROTHER'S |
| Birth History Information |
| |
|
| Additional Information: |
DELIVERED AT TERM VIA CESAREAN SECTION AT 37 WEEKS GA FOR OLIGOHYDRAMNIOS; ASPIRATION EVENT; APGAR SCORES OF 7 AND 10; BIRTH WEIGHT 2.3 KG; DECREASED TONE, FLOPPY ECCHYMOTIC HANDS AND FEET; OXYGEN SUPPLEMENTATION AND PHOTOTHERAPY IN NICU; CLOSED REDUCTION HIP SURGERY - SPICA CAST FOR 3 MONTHS AND RHINO BRACE; DIAGNOSED WITH MILD LEFT-SIDED TORTICOLLIS AND KYPHOSIS |
| Dysmorphic Features |
| |
|
| Additional Information: |
KERATOSIS PILARIS |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
CONGENITAL HYPOTONIA; HIP DYSPLASIA; JOINT HYPERLAXITY |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Contractures
|
| Additional Information: |
LEFT SIDED HIP CONTRACTURE AT 2 WEEKS; LEFT-SIDED HIP DYSPLASIA, TORTICOLLIS AND KYPHOSIS |
| Developmental Milestones |
| |
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Running: |
Not achieved and not maintained |
| Additional Information: |
HEAD CONTROL AT 2 MONTHS, ROLLED OVER COMPLETELY AT 6 MONTHS; SIT INDEPENDENTLY (WHEN PLACED) AT 6 MONTHS; BABBLE AT 6 MONTHS; FIRST WORDS AT 6 MONTHS; BRING HANDS TO MOUTH AT 6 MONTHS; FINGER FEED AT 8 MONTHS; PINCER GRASP AT 9 MONTHS; FROM 8 MONTHS TO 11 MONTHS WAS IN A SPICA CAST; AT 18 MONTHS OF AGE COULD ROLL OVER, SIT AND PULL-TO-STAND STARTING FROM A 90 DEGREE SITTING POSITION; HAS NOT CRAWLED OR WALKED |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
GOOD APPETITE |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
SLIGHTLY ATROPHIC IN THE BILATERAL UPPER AND LOWER EXTREMITIES |
| Respiratory and Cardiovascular Testing: |
NORMAL EKG AND ECG |
| Uncategorized Testing: |
STRENGTH: NECK FLEXION IS SUB-GRAVITY; HEAD LAG; NO WEIGHT BEARING ON LEGS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| Family History |
| |
COUSIN DIAGNOSED WITH SMA; REMOTE HISTORY OF CONSANGUINITY; MATERNAL AND PATERNAL RELATIVES ARE SEPHARDIC JEWISH |
| Remarks |
Clinically affected. See Phenotypic Data tab. |