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Participant 084

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Female, age 10 with multiple congenital anomalies including choanal stenosis, Chiari 1 malformation, two-vessel short cord, right eye microphthalmia with coloboma, and heart defects (bicuspid aortic valve, hypoplasia of aortic arch)

Date of Report

Aug 17, 2018


The participant has multiple congenital anomalies including narrow nasal passageway (choanal stenosis), brain and spinal cord abnormalities (Chiari 1 malformation, syrinx), two-vessel short cord, eye abnormalities (right eye microphthalmia with coloboma), and heart defects (bicuspid aortic arch, hypoplasia of the aortic arch). Just after her second birthday, her parents noticed she had short stature; this is being treated with a growth hormone. She does not have any cognitive impairments.

Symptoms / Signs
  • Eye abnormalities (coloboma of right iris, retina and optic nerve; right eye lens subluxation and microphthalmia- wears a scleral ocular prosthesis in right eye; left eye astigmatism; hypertelorism)
  • Heart abnormalities (atrial septal defect; coarctation of aorta; patent ductus arteriosus; bicuspid aortic valve; left ventricular hypertrophy; prolonged QT; intermittent bradycardia)
  • Protruding sternum (pectus carinatum)
  • Abnormality of connections between brain and spinal cord (tethered cord; Arnold-Chiari type I malformation)
  • Flat feet (pes planus)
  • Delayed skeletal maturation
  • Curved fingers (clinodactyly)
  • Narrowing of nasal passageway (choanal stenosis)
  • Intestines outside body at birth (omphalocele)
  • Fluid-filled cyst on spinal cord (syringomyelia of cervical and thoracic spinal cord)
  • Abnormalities of urinary tract (neurogenic bladder due to syrinx; abnormalities of bladder and urethra; kidney reflux)
  • Curved spine (kyphosis)
  • Extra spleen (accessory spleen)
  • Underdeveloped nipples (hypoplastic nipples)
  • Short neck
  • Short stature
  • Growth hormone deficiency
Current Treatments
  • Maxatrol for prosthetic eye when dry
  • Nitrofuratoin – prophylactic antibiotic
  • Growth hormone norditropin flex pro for short stature
  • Laxatives for constipation
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • CHARGE syndrome
  • Kabuki syndrome
  • Townes-Brocks syndrome
  • Alagille syndrome
  • Cat eye syndrome
  • 22q11.2 deletion syndrome
Other Photographs
Genetic Variants of Interest

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