Hypospadias can be part of congenital syndromes such as Opitz syndrome (BBB syndrome), which can be recognized by midline abnormalities, including hypertelorism, cleft lip, heart defects ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

Cleft lip and cleft palate (CL/CP) are the most commonly occurring craniofacial birth defects. Although some CL/CPs are detected on prenatal ultrasound, the majority are immediately recognized in ...

Holoprosencephaly results when the prosencephalon fails to separate properly between days 18 and 28 of gestation, leading to brain abnormalities, facial deformities (such as cyclopia, median or ...

Methods and results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, ...

In most individuals with treatment information available, surgical intervention was required (27/34). Dysmorphic facial features were reported in 42/54 and were consistent with those previously ...