| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
22 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
0 NB |
| Age at Diagnosis(If not a control) |
3 MO |
| 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: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO PATHOGENIC VARIANT IN THE PACS1 GENE, C.607C>T P.(R203W), EXON 4. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
3 MONTHS |
| In Utero History Information |
| |
Abnormal fetal heart rate or rhythm
|
| Additional Information: |
FETAL BRADYCARDIA BEGINNING IN 3RD TRIMESTER |
| Birth History Information |
| |
Failure to thrive
|
| Additional Information: |
BORN AT 38 WEEKS, ARRYTHMIA, WEAK SUCK, ELEVATED BILIRUBIN |
| Dysmorphic Features |
| |
|
| Additional Information: |
SLIGHTLY LOW SET EARS, DOWNSLANTING PALPEBRAL FISSURES, BRACHYCEPHALY, POOR ORAL TONE, HIGH-ARCHED PALATE, MILD TORTICOLLIS, CONGENITAL EYE ANOMALIES |
| Neurological Symptoms |
| |
|
| Additional Information: |
MILD SLEEP APNEA |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
UNDERDEVELOPED RETINA (FOVEAL HYPOPLASIA), ASTIGMATISM |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
EXPRESSIVE LANGUAGE DISORDER, DEVELOPMENTAL DELAY |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
NG TUBE DEPENDENT, FEEDING INTOLERANCE, CRICOPHARYNGEAL SPASMS/LARYNGOMALACIA, CYCLIC VOMITTING |
| Genitourinary Symptoms |
| |
Kidney abnormalities
|
| Additional Information: |
DUPLICATE LEFT RENAL COLLECTING SYSTEM (L KIDNEY> R) |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
VENTRICULAR SEPTAL DEFECT, STRIDOR |
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI: NORMAL, EEG: NORMAL |
| Respiratory and Cardiovascular Testing: |
EKG FINDINGS OF ARRHYTHMIA AFTER BIRTH BUT NO LONG QT WAS IDENTIFIED. |
| Uncategorized Testing: |
PYLORUS US: NORMAL, FLUOROSCOPIC SWALLOW STUDY: DEEP PENETRATION WITH THIN AND THICKENED CONSISTENCIES BUT NO TRACHEAL ASPIRATION |
| Treatments and Assistive Devices |
| |
Physical therapy
Speech therapy
|
| Surgeries |
TONGUE TIE RELEASE, LIP TIE RELEASE, EGD WITH PYLORIC BOTOX INJECTIONS, UNDERWENT DIRECT LARYNGOSCOPY AND SUPRAGLOTTOPLASTY. |
| Medications |
| |
ALBUTEROL (2.5MG/3ML), ALBUTEROL (90MCG/INH), CEFDINIR (125MG/5ML ORAL LIQUID), CYPROHEPTADINE (2MG/5ML ORAL SYRUP), DIAZEPAM (2.5MG RECTAL KIT), IPRATROPIUM (0.5MG/2.5ML INH), IPRATROPIU, (HFA 17MCG/ING), LACTOBACILLUS RHAMNOSUS GG, LACTULOSE (10G/15ML ORAL SYRUP), LEVEITRACETAM (KEPPRA 100MG/ML), MELATONIN, SIMETHICINE (20MG/0.3ML), SODIUM CHLORIDE (3% INH), GLYCERIN SUPPOSITORY AS NEEDED |
| Family History |
| |
MOTHER IS PKU CARRIER, HX OF BRAIN ANEURYSM, RH NEGATIVE BLOOD TYPE, O-; 3RD TRIMESTER HAD A SEVERE VIRAL INFECTION, BRONCHITIS. MOTHER HAS A HISTORY OF ANXIETY, ARTHRITIS, ASTHMA, HIGH CHOLESTEROL. FATHER HAS HISTORY OF HIGH BLOOD PRESSURE AND IBD. |
| Remarks |
See "Phenotypic Data" tab. Unaffected mom is GM30082. |