Ectopia cordis


Phocomelia

Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).


合計: 1

                      


(表示件数)
PMID (PMCID)
9839359
OTHER Infant, Newborn
Infant with midline thoracoabdominal schisis and limb defects.
Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D.
Teratology. 1998;58(5):205-8.
An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and various limb defects including ectrodactyly of the right hand and left foot, and phocomelia of the right lower extremity.