Robin Clark, MD and Subhadra Ramanathan, M.Sc., M.S.
Case History:
A genetics consultation was requested for a 4-day old term SGA female with poor feeding, who was prenatally diagnosed at 30weeks gestation with IUGR and agenesis of the corpus callosum, raising concern for holoprosencephaly. The baby was conceived by intrauterine sperm injection (IUI). She was born by repeat C- section to a 29-year-old G5 P1 SAb3 mother at 39 weeks gesta- tion. BW 2829 grams (12th %ile), HC 32.5 cm (10.6th %ile). Apgar scores were 8 at one and 9 at five minutes. She required occupational therapy to assist with oral feedings, and the NG tube was used for gavage. Brain MRI at one day of age confirmed agenesis of the corpus callosum without other CNS anomalies. Echocardiogram revealed a large PDA and PFO. Chromosome microarray was pending.
The family history was negative for consanguinity and other affected children. The mother reported that all five of her pregnancies were with the same partner. Their only other living child was conceived with IVF.
The physical exam revealed a small, mildly dysmorphic female with a large nevus flammeus on her forehead. She had several unusual facial features: large, soft anterior and posterior fontanels, down-slanting palpebral fissures, periorbital puffiness, a beakednose with columella that extended below the alae nasi, mild micrognathia and a small posterior cleft of the soft palate. Her thumbs were broad and deviated. Her great toes were broad but not deviated. Her tone was mildly decreased.
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References:
- Beets L, Rodríguez-Fonseca C, Hennekam RC. Growth charts for individuals with Rubinstein-Taybi syndrome. Am J Med Genet A. 2014 Sep;164A(9):2300-9. PMID 24989455
- Fergelot P, Van Belzen M, Van Gils J, et al. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016 Dec;170(12):3069-3082. PMID 27648933
- Milani D, Manzoni FM, Pezzani L, et al. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. Ital J Pediatr. 2015 Jan 20;41:4. PMID: 25599811 4. Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [Updated 2014 Aug 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1526
The authors have no relevant disclosures.