The differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay and with cardio-facio-cutaneous and Noonan syndromes is discussed. [ncbi.nlm.nih.gov]

Abstract We present a 3-year-old child with clinical features of ectodermal dysplasia comprising sparse hair, dystrophic and ridged nails and bilateral obstruction of the nasolacrimal ducts. [ncbi.nlm.nih.gov]

The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. [ncbi.nlm.nih.gov]

OBJECTIVE: To report a unique case of unilateral blindness secondary to transnasal endoscopic surgery and stenting for right choanal atresia. [ncbi.nlm.nih.gov]

Abstract We describe a girl with motor and mental retardation, macrocephaly, a "coarse" face, choanal atresia, postnatal feeding difficulty, redundant skin with deep palmar and plantar creases, and histopathological evidence of altered elastic fibers, [ncbi.nlm.nih.gov]