Judith Jacobi, PharmD, FCCM, BCPS; Gilles L. Fraser, PharmD, FCCM; Douglas B. Coursin, MD; Richard R. Riker, MD; Dorrie Fontaine, RN, DNSc, FAAN; Eric T. Wittbrodt, PharmD; Donald B. Chalfin, MD, MS, FCCM; Michael F. Masica, MD, MPH; H. Scott Bjerke, MD; William M. Coplin, MD; David W. Crippen, MD, FCCM; Barry D. Fuchs, MD; Ruth M. Kelleher, RN; Paul E. Marik, MDBCh, FCCM; Stanley A. Nasraway, ...

The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and ...

A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously des...

Commonly affected anomalies are anorectal malformations (imperforate anus, anteriorly placed anus, anal stenosis), hand malformations (preaxial polydactyly, triphalangeal thumb, bifid thumb), external ear malformations (microtia, “satyr” or “lop” ear, preauricular tag or pits) with sensorineural hearing loss, and renal malformations. In addition, intellectual disability, learning problems, and ...

A seven-month old female presented with left tibial hemimelia (or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot (congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lo...