| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
21 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: |
GENETIC TESTING INCLUDING LIT1 METHYLATION, SNP ARRAY AND CDKN1C TESTING WAS NEGATIVE. |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
SUBJECT WAS BORN TO A 31 YEAR OLD G3 P3 MOTHER AT 40 WEEKS, DELIVERY WAS NORMAL SPONTANEOUS VAGINAL DELIVERY; LARGE BABY- BORN 8LBS 14OZ; NO COMPLICATIONS |
| Dysmorphic Features |
| |
|
| Additional Information: |
MACROGLOSSIA; UNDERBITE; LARGE TONGUE |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
RIGHT SIDED MUSCLE WEAKNESS |
| Developmental Milestones |
| |
|
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
SMILED AT 2 MONTHS; REACHED FOR OBJECTS AT 4 MONTHS; ROLLED OVER AT 6 MONTHS; SITTING WITHOUT SUPPORT SINCE 8.5 MONTHS; RECENTLY STARTED BOTTOM SHUFFLING; WALKED AT 17-18 MONTHS; TALKING SINCE 1 YEAR, HARD TO UNDERSTAND DUE TO MACROGLOSSIA; DOES SLUR WORDS DUE TO LARGE TONGUE; HAS CAUGHT UP TO MILESTONES - NO LONGER HAS DEVELOPMENTAL DELAYS |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
HYPERLIPIDEMIA |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
OBSTRUCTED SLEEP APNEA (OSA); COUGH/WHEEZING/RESPIRATORY DISTRESS (SEEMS MORE UPPER AIRWAY RELATED DUE TO LARGE TONGUE AS OPPOSED TO ASTHMA |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
ELEVATED TRIGLYCERIDES/HYPERLIPIDEMIA - WITH REGULAR DIET |
| Uncategorized Testing: |
ABDOMINAL ULTRASOUND WITH NORMAL RESULTS AND HEMIHYPERTROPHY WAS NOT IDENTIFIED; METHYLATION, SNP ARRAY, AND CDKN1C TESTING ALL NEGATIVE |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
OTHER THERAPY: FEEDING THERAPY |
| Additional Testing: |
FEEDING THERAPY; PARTIAL GLOSSECTOMY; DIET FOCUSING ON MONOSATURATED FATS |
| Medications |
| |
ALBUTEROL; BUDESONIDE; FLONASE; OMEGA 3 |
| Family History |
| |
A THREE GENERATION PEDIGREE WAS OBTAINED, NO KNOWN CONSANGUINITY REPORTED; SUBJECT HAS TWO BROTHERS, ONE WAS DIAGNOSED WITH HIGH FUNCTIONING AUTISM, ONE HAS A PELVIC KIDNEY; FATHER HAD RADIATION POISONING FROM THE MILITARY RESULTING IN LYMPH NODE AND TESTICULAR CANCER; PATERNAL GRANDFATHER'S BROTHER DIED IN HIS 60S FROM AN UNKNOWN CANCER; MATERNAL GRANDMOTHER WAS REPORTED TO HAVE A TREMOR THAT IS "POSSIBLY PARKINSON
'S"; MATERNAL GRANDFATHER'S SISTER HAD A SON WITH A CLEFT PALATE; MATERNAL GRANDFATHER HAD A BROTHER WITH CEREBRAL PALSY AND A SISTER WHO WAS A SMOKER AND DIED OF LUNG CANCER IN HER 50S |
| Remarks |
See "Phenotypic Data" Tab. |