OBJECTIVE A long-term retrospective analysis of 103 infants with anorectal malformations (ARMs) was conducted to describe any associated congenital anomalies and surgical classifications. DESIGN Retrospective medical record review. SETTING This case series was conducted on all infants with ARMs born at, or referred to, any of 3 major medical centers in Wichita, Kan, for close to a 22-year p...

Congenital arhinia is a very rare condition especially when it is isolated. Most of arhinia are identified after birth and only five prenatal cases are described in the literature. Generally, arhinia is associated with other malformations mainly craniofacial anomalies. Genetics aberrations are uncommon. Our case was diagnosed in the second trimester of pregnancy and we found no associated anoma...

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47...

Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was ...

An emerging body of literature has shown that cilia-dependent Hedgehog (HH) signaling is crucial to the patterning of the face. Ciliopathic mutations are frequently associated with craniofacial anomalies, and while the links are clear, the observed phenotypes can vary widely, leading to confusion about how these mutations affect processing of HH effectors. In November 2016’s issue of PLOS Genet...

Complete or partial arhinia is a rare defect of embryogenesis characterized by congenital absence of the soft tissue of the nose and nasal structures. It is generally associated with other craniofacial or somatic anomalies, including midline defects such as cleft palate, highly arched palate, absence of paranasal sinuses, and palatal and ocular abnormalities. Less than 40 patients with arhinia ...

DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 1 in 4000. It is characterized by craniofacial anomalies, conotruncal heart disease, thymic aplasia and hypoplasia, hypocalcemia, and psychiatric illness. In this ar...

Background: Amniotic band syndrome (ABS) or amniotic band disruption is a common cause of sporadic miscellaneous fetal malformation involving limbs, trunk and the craniofacial region. Diagnosis is mainly suspected by ultrasound imaging, where the fetus is seen attached to the amniotic bands. Clinical manifestation is variable from minor constriction rings to fetal or neonatal demise secondary t...