Clinical Pediatrics
Unique cases written by pediatric residents with a faculty member. Resident Rounds
Diagnostic Evaluation in Children
With Developmental Delay: A
Cautionary Tale for Genetic Testing
Clinical Pediatrics
51(12) 1208–1210
© The Author(s) 2012
Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922812460916 http://cpj.sagepub.com Meghana Desale, BA1, Lila T. Worden, BS1, Julie S. Cohen, ScM2,
Anna Maria Wilms Floet, MD1,2, and Alexander Holliday Hoon, Jr., MD, MPH1,2
Case Report
A 20-month-old female was referred for outpatient diagnostic evaluation of motor and speech delay. She was born at 39 weeks by induced vaginal delivery to a
35-year-old mother who had an uncomplicated pregnancy and delivery. Prenatal ultrasounds were normal.
In retrospect, her mother reported a perception of relatively decreased fetal movement compared with her first child. At birth she was appropriate size for gestational age and had an unremarkable perinatal course. She had a subsequent history of recurrent ear infections for which tympanostomy tubes were placed, but was otherwise healthy.
Gross motor and language milestones were delayed.
She crawled at 12 months and walked at 19 months, and continued to have difficulty with balance. She inconsistently followed commands and spoke recognizable 3 words.
She had a 4-year-old brother who was developmentally normal. There was a maternal uncle with a mild learning disability. The family history was otherwise negative for intellectual disability, autism spectrum disorders, recurrent miscarriages, or congenital malformations. There was no history of consanguinity.
On physical exam at 20 months of age, she was 15th percentile for weight, 11th percentile for height, and
24th percentile for head circumference. She had mild synophrys with medial eyebrow flaring but no other dysmorphic features. The remainder of her physical exam was unremarkable. On neurological examination, she had
Diagnostic Evaluation in Children
With Developmental Delay: A
Cautionary Tale for Genetic Testing
Clinical Pediatrics
51(12) 1208–1210
© The Author(s) 2012
Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922812460916 http://cpj.sagepub.com Meghana Desale, BA1, Lila T. Worden, BS1, Julie S. Cohen, ScM2,
Anna Maria Wilms Floet, MD1,2, and Alexander Holliday Hoon, Jr., MD, MPH1,2
Case Report
A 20-month-old female was referred for outpatient diagnostic evaluation of motor and speech delay. She was born at 39 weeks by induced vaginal delivery to a
35-year-old mother who had an uncomplicated pregnancy and delivery. Prenatal ultrasounds were normal.
In retrospect, her mother reported a perception of relatively decreased fetal movement compared with her first child. At birth she was appropriate size for gestational age and had an unremarkable perinatal course. She had a subsequent history of recurrent ear infections for which tympanostomy tubes were placed, but was otherwise healthy.
Gross motor and language milestones were delayed.
She crawled at 12 months and walked at 19 months, and continued to have difficulty with balance. She inconsistently followed commands and spoke recognizable 3 words.
She had a 4-year-old brother who was developmentally normal. There was a maternal uncle with a mild learning disability. The family history was otherwise negative for intellectual disability, autism spectrum disorders, recurrent miscarriages, or congenital malformations. There was no history of consanguinity.
On physical exam at 20 months of age, she was 15th percentile for weight, 11th percentile for height, and
24th percentile for head circumference. She had mild synophrys with medial eyebrow flaring but no other dysmorphic features. The remainder of her physical exam was unremarkable. On neurological examination, she had
References: includes the APC gene. J Hum Genet. 2006;51:141-146. and microduplication syndromes with cancer predisposition by aCGH. Genet Med. 2009;11:314-322. what are the issues? J Med Genet. 2011;48:535-539. Dev Med Child Neurol. 2011;53:994-999.