phenylephrine-hydrochloride and Cardiomegaly

A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.

Topics: Abnormalities, Multiple; Cardiomegaly; Face; Female; Fingers; Genes, Recessive; Growth Disorders; Hair; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Intellectual Disability; Lip; Microcephaly; Nails, Malformed; Nose; Radiography; Respiratory Tract Infections; Syndrome; Toes

Topics: Abnormalities, Multiple; Ankylosis; Arthrogryposis; Cardiomegaly; Clubfoot; Cryptorchidism; Ear, External; Face; Fingers; Humans; Infant; Infant, Newborn; Lung; Male; Mandible; Nose; Palate; Syndrome; Thumb

Topics: Adolescent; Adult; Cardiomegaly; Cerebral Ventricles; Child; Child, Preschool; Choroid; Dwarfism; Female; Fluorescein Angiography; Humans; Infant; Liver; Male; Muscle Tonus; Nose; Ophthalmoscopy; Pigmentation; Syndrome