With only twenty reported cases, features of the rare 14q terminal deletion syndrome include developmental disabilities, microcephaly, growth delay, hypotonia and varied dysmorphisms [1-4]. Ophthalmologic, cardiac, neural, renal and genitourinary anomalies are associated [5,6]. Rare features include limb anomalies, recurrent otitis media and seizure disorder [1,6]. In contrast to 14q terminal d...

Oculo-auriculovertebral spectrum (OAVS) or the Goldenhar syndrome is a rare developmental disorder with plethora of congenital anomalies which mostly affects structures arising from the fi rst and the second branchial arches. The affected structures include cheekbone, jaws, mouth eyes, ear and vertebrae. The case which we are presenting here had classical features such as microsomia, unilateral...

Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.

Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...

A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.

The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpo...

Clinic of Diagnostics and Prevention of Developmental Anomalies of Masticatory Apparatus in Children, Department of Oral Surgery of Poznan University of Medical Sciences Head: Aneta Olszewska M.D., PhD Laboratory of Developmental Facial Anomalies, Department of Oral Surgery of Poznan University of Medical Sciences Head: Barbara Biedziak, M.D., PhD Department of Oral Surgery of Poznan University...

Introduction Amnion rupture in early pregnancy results in severe anomalies such as anencephaly, encephalocoele, exencephaly, acrania, facial clefts and absence of limbs (1,2). Most affected fetuses abort in the second trimester, are stillborn or die soon after birth (1,3).We report an infant with amnion rupture sequence, who survived for 9 weeks after birth. A Medline search failed to reveal do...

The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the ...

Nasal dermoids are rare congenital anomalies, which usually present in early childhood as a midline nasal mass that requires surgical management. It is important to rule out any intracranial extension before subjecting the patient to surgery. We describe a case of nasal dermoid with intracranial extension. The embryology of the formation of the nasal dermoid, cyst and sinus, with the role of CT...