phenylephrine-hydrochloride and Fetal-Growth-Retardation

Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 4; Cytogenetics; Ear; Fatal Outcome; Female; Fetal Growth Retardation; Humans; Karyotyping; Lip; Maternal Age; Microcephaly; Microphthalmos; Nose; Pregnancy; Prognosis; Retrognathia; Risk Factors; Translocation, Genetic; Trisomy

Topics: Abnormalities, Multiple; Child, Preschool; Developmental Disabilities; Facies; Female; Fetal Growth Retardation; Foot Deformities, Congenital; Growth Disorders; Humans; Intellectual Disability; Nose

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the Hutterite population. A few cases have been reported in other populations. Here, we report the results of a genome-wide scan and fine mapping of the BCS locus in Hutterite families. By linkage and haplotype analysis the BCS locus was mapped to a 3.5 cM segment (1.9 Mbp) in chromosome region 12p13.3 bounded by F8VWF and D12S397. When genealogical relationships among the families were taken into account in the linkage analysis, the evidence for linkage was stronger and the number of potentially linked regions was reduced to one. Under the assumption that all the Hutterite patients were identical by descent for a disease-causing mutation, haplotype analysis was used to infer likely historical recombinants and thereby narrow the candidate region to a chromosomal segment shared in common by all the affected children. This study also demonstrates that BCS and cerebro-oculo-facial-skeletal syndrome (COFS) are genetically distinct.

Topics: Abnormalities, Multiple; Chromosome Mapping; Chromosomes, Human, Pair 12; Consanguinity; Ethnicity; Female; Fetal Growth Retardation; Humans; Lod Score; Male; Microcephaly; Micrognathism; Microsatellite Repeats; Nose; Pedigree; 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

Topics: Abnormalities, Drug-Induced; Adult; Anticoagulants; Chondrodysplasia Punctata; Female; Femur; Fetal Death; Fetal Growth Retardation; Gestational Age; Humans; Male; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal; Warfarin

Topics: Abnormalities, Multiple; Adult; Brain; Craniosynostoses; Female; Fetal Diseases; Fetal Growth Retardation; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Micrognathism; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal

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.

Topics: Abnormalities, Multiple; Blepharophimosis; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Nose; Syndrome

We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of little fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.

Topics: Abnormalities, Multiple; Child; Diagnosis, Differential; Eye Abnormalities; Female; Fetal Growth Retardation; Fingers; Growth Disorders; Hirsutism; Humans; Intellectual Disability; Mouth Abnormalities; Nose; Syndrome

Eight patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex, ranging in age from 4 to 33 months, were evaluated for the presence of dysmorphic features recently described as human immunodeficiency virus embryopathy. Birth data and growth charts were available. Growth failure, a prominent box-like head, large wide eyes, and a well-formed philtrum were seen in the majority of patients. The significance of hypertelorism, obliquity of eyes, long palpebral fissures, blue scleras, depressed bridge of nose, and prominent upper vermilion border is discussed.

Topics: Acquired Immunodeficiency Syndrome; AIDS-Related Complex; Face; Female; Fetal Growth Retardation; Growth Disorders; Head; Humans; Infant; Male; Microcephaly; Nose; Pregnancy; Skull

The typical ultrasound findings in cases of fetal holoprosencephaly with hypotelorism and cyclopia are explained with reference to a case history. Hypotelorism was confirmed by measurement of the distance between the orbits of the fetus.

Topics: Abnormalities, Multiple; Adult; Brain; Eye Abnormalities; Facial Bones; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Male; Nose; Pregnancy; Prenatal Diagnosis; Ultrasonography

A newborn female with intrauterine growth retardation, bilateral cleft lip and palate, absent external nares and eyelids, low set ears, short contracted limbs, webbed digits, intestinal malrotation, and unilateral renal agenesis is reported. These multiple malformations are considered part of the Neu-Laxova syndrome.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Eyelids; Female; Fetal Growth Retardation; Humans; Intestines; Kidney; Limb Deformities, Congenital; Nose; Pregnancy; Syndrome