phenylephrine-hydrochloride and Diseases-in-Twins

Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had agenesis of the corpus callosum and one had holoprosencephaly. We report here a patient with a small unique interstitial deletion of the long arm of chromosome 3 spanning 3q13.1q13.3. This patient has agenesis of the corpus callosum, global developmental delay, and distinctive facial features of a small nose, anteverted nares, and broad nasal root. Our patient provides further evidence that a gene involved in corpus callosum development or neuronal migration may reside in this region.

Topics: Agenesis of Corpus Callosum; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 3; Developmental Disabilities; Diseases in Twins; Female; Humans; Infant; Infant, Newborn; Nose; Phenotype; Twins, Dizygotic

Congenital nasal pyriform aperture stenosis is a rare cause of pediatric nasal airway obstruction. As infants are obligate nasal breathers, nasal obstruction and even severe nasal congestion can lead to apnea and respiratory distress. Congenital nasal pyriform aperture stenosis was first described by Brown et al in 1989. The narrowing of the nasal pyriform aperture is thought to be due to bony overgrowth of the nasal process of the maxilla during fetal development. Because of the association this anomaly has with other midline defects, such as holoprosencephaly, it is important to recognize it and pursue a thorough workup. We present a case of a patient with pyriform aperture stenosis and solitary central megaincisor. This patient initially presented to our clinic with a history of nasal airway obstruction, poor feeding, and failure to thrive.

Topics: Diagnosis, Differential; Diseases in Twins; Humans; Infant, Newborn; Magnetic Resonance Imaging; Nasal Obstruction; Nose; Otorhinolaryngologic Surgical Procedures; Tomography, X-Ray Computed

Topics: Adolescent; Adult; Animals; Child; Diseases in Twins; Humans; Infant, Newborn; Maxillofacial Development; Nasal Septum; Nose; Nose Deformities, Acquired; Wound Healing

The purpose of this article is to present a long-term follow-up of the growth of the face and the nasomaxillary complex in a pair of identical twins, one of whom had suffered severe midfacial trauma at age 2 years. Growth of the face and the nasomaxillary complex was longitudinally assessed and compared by means of facial photographs and cephalometric x-rays. Twin A suffered Le Fort II and III fractures with an associated frontal bone injury in early childhood and subsequently developed significant midface hypoplasia; twin B had no trauma and normal facial growth and development. Facial profile difference between the twins gradually became more pronounced until age 19. Twin A had obvious retrusion of the midfacial region, including the nasal bones on visual examination and radiographic study. At age 20, she underwent orthognathic surgical correction of the traumatic deformity. Her unaffected sibling, twin B, provided the genetic facial phenotype for the surgical orthognathic reconstruction.

Topics: Cephalometry; Diseases in Twins; Female; Follow-Up Studies; Frontal Bone; Humans; Longitudinal Studies; Malocclusion, Angle Class III; Maxilla; Maxillary Fractures; Maxillofacial Development; Nose; Nose Deformities, Acquired; Orthognathic Surgical Procedures; Overbite; Photography; Radiography, Panoramic; Skull Fractures; Twins, Monozygotic; Young Adult

Topics: Codon, Nonsense; Diseases in Twins; Ephrin-B1; Exons; Female; Humans; Molecular Sequence Data; Nose; Skull; Syndrome

There is no article in the literature correlating only craniofacial abnormalities in twins. Since 1985 the Tygerberg Craniofacial Unit has treated nine pairs of twins. In this retrospective study, the authors correlate the craniofacial and systemic anomalies with the specific twin type.. The frequency of human twinning varies from 1 in 30 to 1 in 150 pregnancies. These can be monozygotic (MZ) or dizygotic (DZ). Monozygotic or identical twins occur when a single ovum is fertilized, so the twins possess an identical set of nuclear genes. DZ twins result from the fertilization of two separate ova.. Of the nine sets of twins, six were MZ (identical) and three DZ. Twelve patients presented with craniofacial abnormalities (CFA), which ranged from deformational plagiocephaly, scaphocephaly, trigonocephaly, to frontonasal dysplasia. Craniosynostosis was the most common CFA. Associated abnormalities included facial, limb, and cardiac defects.. Twins with CFA are rare. The authors found that MZ twins are affected more and are more likely to have both siblings affected. DZ twins are affected less and are unlikely to have a co-twin affected.

Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Craniosynostoses; Diseases in Twins; Female; Frontal Bone; Humans; Male; Nose; Retrospective Studies; Twins, Dizygotic; Twins, Monozygotic

Topics: Adult; Diseases in Twins; Encephalocele; Facial Bones; Female; Fetal Diseases; Humans; Hypertelorism; Nose; Pregnancy; Pregnancy, Multiple; Twins, Dizygotic; Ultrasonography, Prenatal

Topics: Child Abuse; Diseases in Twins; Humans; Infant; Male; Mental Disorders; Mothers; Nose

The anomaly of facial cleft no. 1 has been encountered recently. It is a rare finding and, accordingly, is being reported with the hope that more craniofacial clefts will be seen in the future and direct the attention of the medical community to the problems.

Topics: Child, Preschool; Cleft Lip; Cleft Palate; Diseases in Twins; Female; Humans; Incidence; Nose

Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.

Topics: Diseases in Twins; Female; Femur; Genes, Dominant; Humans; Infant, Newborn; Nose; Osteochondrodysplasias; Paternal Age; Radiography, Thoracic; Thanatophoric Dysplasia; Thorax; Twins; Twins, Monozygotic

Three cases of congenital absence of the nasal columella are presented: one male and twin females. The male also had bilateral congenital cataracts. The nose and the septum were otherwise well developed and appeared normal. The missing segment involved the medial crura of the alar cartilages with their tegumental mantle. There was no deformity of the upper lip or alveolus. Two procedures for reconstruction of the columella that were used in these cases are described in detail. The embryonic pathogenesis of this deformity is suggested.

Topics: Adolescent; Child; Diseases in Twins; Female; Follow-Up Studies; Humans; Male; Nose; Skin Transplantation; Surgical Flaps; Twins, Dizygotic

Our 20-year experience with the treatment of 154 nasal clefts corresponding to numbers 1, 2, 3, and 0 of Tessier's classification is presented. The different varieties of each type of cleft are discussed, and the clinical features and therapeutic problems of each are described. The various operative procedures used in the last two decades are analyzed, and we evaluate the long-term evolution in relation to the aesthetic results and facial growth. Our present criteria for treatment are presented.

Topics: Adolescent; Adult; Child, Preschool; Coloboma; Diseases in Twins; Facial Bones; Female; Humans; Male; Nose; Rhinoplasty; Skull; Surgery, Plastic

Topics: Abnormalities, Multiple; Adult; Diseases in Twins; Ear; Eye Abnormalities; Female; Genes, Recessive; Humans; Infant, Newborn; Kidney; Nose; Pregnancy; Syndrome; Terminology as Topic; Twins, Monozygotic

Postnatal nasal injury occurring before full growth results in certain changes in the development of the nose and of the face. An assessment of the role of the cartilaginous nasal septum in this growth has been attempted by observing adults who had dissolution of the cartilaginous septum in childhood. The immediate management of long term follow up care of patients so afflicted is discussed. Also observed into adult life were several patients on whom lateral, medial or transverse osteotomies or combinations of these had been performed in childhood to determine if such procedures interfered with growth of the nose and face.

Topics: Abscess; Child; Child, Preschool; Diseases in Twins; Female; Follow-Up Studies; Humans; Male; Maxillofacial Development; Nasal Septum; Nose; Nose Deformities, Acquired; Nose Diseases; Osteotomy; Rhinoplasty

Topics: Diseases in Twins; Ear, External; Female; Genes, Dominant; Humans; Infant, Newborn; Nose; Pedigree

Nine patients with aberrations in development and placement of the eyes and periocular structures who also had serious defects in central nervous system development were evaluated in order to better understand normal ocular development. Included were an incompletely developed twin stillborn infant who lacked both eyes and the nose, a stillborn infant with cyclopia hypognathia, 6 spontaneous abortuses with varying degrees of holoprosencephaly, and a 17-year-old male with a serious defect in central nervous system development whose right eye was positioned laterally above the right ear. In all cases, evidence indicates that orbital and periocular structures are determined by the underlying optic vesicle rather than independently derived as has been suggested by previous studies.

Topics: Abnormalities, Severe Teratoid; Adolescent; Anophthalmos; Central Nervous System; Diseases in Twins; Eye; Eye Abnormalities; Female; Fetal Death; Head; Humans; Infant, Newborn; Male; Nose; Orbit; Pregnancy

An oculistic and orthoptic screening has been carried out on a sample of 122 twins aged 6 to 10 years (31 MZ male and 30 MZ female pairs). A few remarks could be made, concerning both twins as such and the heritability of the traits under examination. The twins appear to differ from the general population of singletons of the same age on account of a lower frequency of ametropia and strabismus as well as of a high frequency of epicanthus.

Topics: Child; Diseases in Twins; Female; Humans; Male; Nose; Pregnancy; Refractive Errors; Strabismus; Twins; Twins, Monozygotic

Topics: Carrier State; Child, Preschool; Diseases in Twins; Humans; Nose; Staphylococcal Infections; Staphylococcus

Topics: Adolescent; Adult; Asthma; Blood Cell Count; Child; Child, Preschool; Cockroaches; Diseases in Twins; Dust; Female; Fungi; Humans; Karyotyping; Male; Nose; Pharynx; Poaceae; Pollen; Radiography, Thoracic; Skin Tests; Staphylococcus; Tuberculin Test

Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Cleft Lip; Cleft Palate; Diseases in Twins; Ear, External; Female; Genitalia; Humans; Infant, Newborn; Karyotyping; Leukocytes; Male; Nose; Taiwan; Trisomy

Topics: Abnormalities, Multiple; Adolescent; Blood Cells; Child; Deafness; Diseases in Twins; Eye Diseases; Eyebrows; Face; Female; Foot Deformities, Congenital; Genes, Dominant; Hand Deformities, Congenital; Humans; Intellectual Disability; Iris; Karyotyping; Keratosis; Male; Middle Aged; Nose; Pedigree; Pigmentation Disorders; Waardenburg Syndrome

Topics: Cleft Lip; Cleft Palate; Diseases in Twins; Facial Bones; Glycosaminoglycans; Histocytochemistry; Humans; Hyaluronic Acid; Nose; Palate