phenylephrine-hydrochloride and Failure-to-Thrive

5p- is a well-defined syndrome, but phenotypic correlations of 5q are poorly described in the literature. We present a case of a female child with interstitial deletion in the 5q13.1q15 region. Comparison of the clinical features of this patient with others reported in the literature suggests an emerging clinical syndrome defined by short stature, failure to thrive, mental retardation, slanting palpebral fissures, malformed ears, short neck and depressed nasal bridge. Based on our endocrine testing, we hypothesize that the short stature could be, in part, due to growth hormone deficiency. The recent assignment of growth hormone receptor gene to the short arm of chromosome 5 and the presence of several genes for growth factors and growth factor receptors on 5q raise interesting possibilities for the explanation of short stature in such cases.

Topics: Adult; Body Height; Child; Chromosome Deletion; Chromosomes, Human, Pair 5; Cleft Palate; Ear; Failure to Thrive; Female; Foot Deformities, Congenital; Growth Disorders; Growth Hormone; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Nose; Pregnancy; Syndactyly; Syndrome

We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].

Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 9; Failure to Thrive; Hand Deformities, Congenital; Humans; Infant, Newborn; Karyotyping; Male; Multigene Family; Nose; Scrotum; Syndrome; Trisomy

Topics: Abnormalities, Multiple; Exocrine Pancreatic Insufficiency; Failure to Thrive; Humans; Infant; Nose; Syndrome

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia. Some endocrinological dysfunctions--growth hormone (GH) deficiency, hypothyroidism, and diabetes mellitus--are known to complicate this syndrome. We report here a Japanese infant with Johanson-Blizzard syndrome presenting with failure to thrive. Endocrinological examination by insulin-induced hypoglycemia showed not only the presence of GH deficiency, but also the loss of the glucagon secretion response to hypoglycemia. This complication suggests abnormal input of autonomic nerves to the islets of pancreas in Johanson-Blizzard syndrome.

Topics: Abnormalities, Multiple; Consanguinity; Exocrine Pancreatic Insufficiency; Failure to Thrive; Glucagon; Growth Disorders; Growth Hormone; Humans; Hypoglycemia; Infant; Insulin; Male; Nose; Pancreas; Scalp; Stimulation, Chemical; Syndrome

The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children.

Topics: Abnormalities, Multiple; Christianity; Ethnicity; Failure to Thrive; Fetal Growth Retardation; Genes, Recessive; Humans; Infant; Infant, Newborn; Microcephaly; Micrognathism; Nose; Syndrome

Topics: Abnormalities, Multiple; Christianity; Ethnicity; Failure to Thrive; Fetal Growth Retardation; Genes, Recessive; Humans; Infant; Infant, Newborn; Microcephaly; Micrognathism; Nose; Syndrome