Case #12772 - Four limbs ectrodactyly and cardiac malformations

Synopsis

 fetus, 24 weeks
 facial dysmorphism

• long philtrum
• thin superior lip
• micrognathia
• retrognathia

 four limbs ectrodactyly

 cardiac malformations

• pulmonary artery hypoplasia
• interventricular septal defect (membranous septum)
• right aortic arch
• great vessels malposition

Diagnostic hypothesis

 acro-cardio-facial syndrome (ACFS)
 CCGE association: cleft palate, cardiac defect, genital anomalies, and ectrodactyly

References

 Mingarelli R, Zuccarello D, Digilio MC, Dallapiccola B. A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. Am J Med Genet A. 2005 Jul 1;136(1):84-6. PMID: 15937946

 Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A.Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.Clin Dysmorphol. 2000 Oct;9(4):269-72. PMID: 11045583

 Van Den Ende JJ, Van Der Burgt CJ, Jansweijer MC, Hamel BC, Brunner HG. Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. Clin Dysmorphol. 1996 Jan;5(1):1-7. PMID: 8867653

 Giannotti A, Digilio MC, Mingarelli R, Dallapiccola B. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). J Med Genet. 1995 Jan;32(1):72-4. PMID: 7897634