Transcript Supplemental Digital Content Figure 1: Photographs of affected

Supplemental Digital Content
Figure 1:
Photographs of affected males
with FG syndrome.
Family 2 (K9367)
Family 2 (K9367), III-1
He required pureed foods during childhood
due to choking. As a child he had frequent
pneumonias and otitis media requiring PE
tubes. He received developmental
interventions from 2 months of age. He
engages in repetitive and self-stimulatory
behaviors, such as humming, flapping and
spinning. He perseverates on phrases and
ideas and has compulsive behaviors such as
repeatedly flushing a toilet.
Patient III-1 at age 17 years (left)
Patient II-3 at age 43 years (right)
Family 2 (K9367), II-3
Chronic ear infections in the first year of life
were treated with gamma globulin. He is well
muscled and strong as an adult. He works in
his community as a groundskeeper, shoveling
snow and splitting wood.
Family 3 (K9411)
Patient IV-2 at age 7 years
Family 3 (K9411), IV-1
He was born in 1999 to a 25 year old primigravida. After
diminished fetal movements and hypertension in the 3rd
trimester, labor was induced at 42 weeks gestation. Birth weight
was 3.43 kg (50th percentile) and birth length was 54.6 cm (97th
percentile). Patent ductus arteriosus, atrial septic defect (ASD)
and a single renal cyst were diagnosed. At 8 days of age when he
was discharged, he was still feeding slowly by mouth. At 4 weeks
of age, a ventricular septal defect (VSD) was diagnosed. Oral
motor issues, poor feeding, mouth breathing and drooling led to
occupational therapy from 6 weeks of age. He had
laryngeotracheal malacia. Eventually, he fed by mouth. His
gastrostomy tube is used for medications only. His oral aversions
and restricted food preferences (fruit, bread, macaroni and
cheese, yogurt) exacerbate his constipation. With medication, he
had 3-4 bowel movements a week. Before he was 3 years of age,
he had surgical procedures for occluded tear ducts, ear
ventilation tubes and
Family 3 cont.
adenoidectomy. A muscle biopsy showed “mild atrophy.” He had multiple hospital admissions for
respiratory difficulties and tracheomalacia. Now he requires treatment with racemic epinephrine with
a nebulizer when he has asthma-like symptoms. He had glasses for far-sightedness. He used 2 word
phrases and connected speech at 33 months. His speech was nasal. He perseverates on the same topic.
Any changes in his routine trouble him. He fixates on certain things that bother him and he is anxious
to please people. Eye contact is good and he engages in imaginative play. He is in a regular classroom
with extra help for math, reading and speech. He was toilet trained by 6 years of age. The diagnosis of
FG syndrome was made when he was 2 1/2 years old.
Aside from his affected deceased brother, IV-2, his family history is negative. His only maternal aunt
had hyperthyroidism and a healthy son.
On physical exam at age 7 ½ years, height was 122.7 cm (25-50th percentile), weight was 19.4 kg (5th
percentile) and head circumference was 51 cm (10-25thcentile). There was ridging of the metopic and
sagittal sutures, but no plagiocephaly. The eyes were normally spaced with slit-like palpebral fissures
and supraorbital puffiness. The simple, low-set, cupped ears were small (4.2 cm, 4.4 cm, <3rd
percentile) with narrow external auditory canals. The upper lip was tented and the lower lip was
everted. The palate was high and narrow. Teeth were widely spaced in the upper arch and crowded in
the lower arch. His sternum was short (10.4 cm, <3rd percentile) and his internipple measurement was
narrow (12.2 cm, 10th percentile). He had a harsh midsystolic murmur. His muscle mass was mildly
reduced.
Family 4 (K9346)
Patient III-10 at 2 years, 5 years and 16 years. This is the family from the original report of FG syndrome.
Family 5 (K9404)
Patient II-1, at age 3 years, 8 years, 39 years and 61 years.
Patient II-3 at age 26 (These photos are reprinted with permission from The Journal of Pediatrics, Keller MA,
Jones KL, Nyhan WL, Francke U, Dixson B. A new syndrome of mental deficiency with craniofacial, limb, and anal
abnormalities. J Pediatr. 1976:88(4 Pt. 1);588-591, Copyright 1976, Elsevier).
Family 5 cont.
Patient II-10 at age 16 year and 48 years. (Photo on the left is reprinted with
permission from The Journal of Pediatrics, Keller MA, Jones KL, Nyhan WL, Francke U,
Dixson B. A new syndrome of mental deficiency with craniofacial, limb, and anal
abnormalities. J Pediatr. 1976:88(4 Pt. 1);588-591, Copyright 1976, Elsevier).