Phenotypes for disease #01054 (OFD1 (orofaciodigital syndrome, type I (OFD-1)), OMIM:311200)

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0000310502 9y9m: presented to the Emergency Department for evaluation of a one-week history of increased urinary frequency and thirst, also complained of decreased appetite; noted to have a 7 lbs unintentional weight loss over the past week; strong family history of diabetes mellitus; blood glucose finger stick: elevated, 138 mg/dL, urinalysis: glucosuria 100 mg/dL; birth history: remarkable for prematurity (induced at 36 weeks for intrauterine growth restriction), born via Cesarean section secondary to fetal distress; birth weight: 2690g, length: 48.3 cm, monitored in the neonatal intensive care unit for 24 hours for concerns of hypoglycemia given maternal gestational diabetes but his blood glucose levels remained within normal range, noted to have jaundice but did not require phototherapy, passed newborn hearing screen prior to discharge. Past medical history: significant for an endocrine evaluation at 4y3m: polyuria, polydipsia, and weight gain; weight: stable in the 50th percentile until approximately 2 years of age, increased to the 90th percentile, 99th percentile at the time of endocrinology clinic visit; height: 25th percentile at 3y, approximately 15th percentile at the time of his endocrinology visit; evaluation remarkable for an elevated fasting blood glucose level of 113 mg/dL and mildly elevated thyroid stimulating hormone at 5.3 mIU/L (normal range 0.5-4.3 mIU/L); serum creatinine: 0.41 mg/dL, electrolytes: unremarkable; further studies recommended for evaluation of thyroid function and Cushing’s syndrome but not completed at that time; history of multiple sinus and ear infections requiring adenoidectomy and four sets of myringotomy tubes being placed over his lifetime; speech delay as sequela of his frequent ear infections, received speech therapy twice weekly and hearing therapy three times weekly, physical and occupational therapy services until he was in kindergarten for delayed milestones including walking at 16 months of age; receives additional support for reading; formal academic testing: not yet cometed; immunologic evaluation at an outside hospital due to his frequent infections: unremarkable; diagnosed with asthma starting at 1 year of age and: prescribed fluticasone and cetirizine; family history: notable for maternal renal injury secondary to diabetes occurring during pregnancy but not requiring renal replacement therapy; photophobia in his mother, nephrolithiasis in the maternal grandfather and maternal aunt, hypertension in the maternal grandfather, and hearing loss and photophobia in a first cousin on the maternal side; no family history of consanguinity; subjective chills and constipation, waking at night to drink and to void. He denied fever, abdominal pain, daytime or nighttime enuresis, urgency, dysuria, inability to empty his bladder, or hematuria; Emergency Department blood pressure: 123/71 mmHg, weight: 37 kg (82nd percentile), and height: 127.5 cm (3rd percentile); grade 2/6 systolic ejection murmur and hypogonadism; photophobia during his eye exam, no other dysmorphic features noted; initial laboratory work-up: elevated serum creatinine of 4.4 mg/dL, low serum calcium of 7.7 mg/dL (8.8-10.1 mg/dL), and slightly elevated serum phosphorus of 6.1 mg/dL (3.7-5.6 mg/dL), serum intact parathyroid hormone level: elevated at 340 pg/mL (9- 52 pg/mL); complete blood count: normocytic anemia with serum hemoglobin of 8.1 g/dL (11.5-15.5 g/dL); urinalysis: moderate blood, no proteinuria, no leukocyte esterase, and a specific gravity of ≤1.005; renal/bladder ultrasound: small kidneys with right kidney 6.6 cm and left kidney 7.8 cm with increased echogenicity bilaterally and no evidence of cystic disease; echocardiogram given his finding of a murmur: unremarkable; ophthalmology exam performed with concern for cystinosis but cystine crystals not visualized; diagnosed with bilateral retinal dystrophy with 20/50 right and 20/30 left eye; bone age test secondary to concerns of short stature: greater than 2 standard deviations above his chronological a - orofaciodigital syndrome, type I (OFD-1) Familial, X-linked 09y09m - - - - LOVD 00419215
0000310503 delivered by caesarean section at 32 weeks of gestation; pregnancy complicated by polyhydramnios, intrauterine growth retardation, and congenital heart defects; birth weight: 1704 g (-0.2 SD), length: 40.0 cm (-0.8 SD), and occipital frontal circumference: 33.3 cm (+2.0 SD); admitted to a NICU because of respiratory insufficiency, and received mechanical ventilation; craniofacial features: a prominent forehead, hypertelorism, dysplastic ears, a small cleft lip, and a soft cleft palate; ultrasonography: hydrocephalus with Dandy-Walker malformation and hypoplastic left heart syndrome; died 1 day after birth; autopsy findings: agenesis of the cerebellar vermis, enlargement of the fourth ventricle and aqueduct, anomalous positioning of the esophagus, mild pulmonary congestion, and insufficient lobulation of the right lung - orofaciodigital syndrome, type I (OFD-1) Familial, X-linked 00y00m01d - - - - LOVD 00419216
0000310504 very mild, only a few accessory frenulae and irregular teeth with no facial anomalies or tongue abnormalities; radiograph of hands: no abnormalities; an abdominal ultrasonography: no cysts in the kidneys, liver, or pancreas - orofaciodigital syndrome, type I (OFD-1) Familial, X-linked 22y - - - - LOVD 00419217
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