phenylephrine-hydrochloride and Dwarfism

Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n = 29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. The review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.

Topics: Abnormalities, Multiple; Anus, Imperforate; Databases, Genetic; Dwarfism; Ectodermal Dysplasia; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Intellectual Disability; Mutation; Nose; Pancreatic Diseases; Phenotype; Ubiquitin-Protein Ligases

Topics: Adolescent; Dwarfism; Female; Humans; Limb Deformities, Congenital; Male; Nose; Spine; Syndrome

Topics: Abnormalities, Multiple; Congenital Hypothyroidism; Deafness; Dwarfism; Humans; Nose; Syndrome; Tooth Abnormalities

Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips. We described two cases with Floating-Harbor syndrome and briefly reviewed the relevant literature.

Topics: Abnormalities, Multiple; Child, Preschool; Craniofacial Abnormalities; Diagnosis, Differential; Dwarfism; Face; Facial Bones; Female; Fingers; Hearing Loss; Heart Septal Defects, Ventricular; Humans; Infant; Intellectual Disability; Male; Mouth Abnormalities; Nose; Pulmonary Valve Stenosis; Speech Disorders; Syndrome

The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and microcephaly. In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, sensorineural hearing loss and vesico-ureteral reflux. A case is presented and the potential anaesthetic implications of this syndrome are discussed.

Topics: Abnormalities, Multiple; Anesthesia, Inhalation; Anesthetics, Inhalation; Child, Preschool; Dwarfism; Female; Genes, Recessive; Humans; Methyl Ethers; Nose; Sevoflurane; Syndrome

Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.

Topics: Body Height; Child; Dwarfism; Female; Glycosaminoglycans; Human Growth Hormone; Humans; Nose; Radiography; Scoliosis; Treatment Failure

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development. Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.

Topics: Anodontia; Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Dental Pulp Cavity; Dentin Dysplasia; Dwarfism; Ear, External; Forehead; Humans; Intellectual Disability; Male; Malocclusion, Angle Class II; Microcephaly; Nose; Open Bite; Syndrome; Tooth Abnormalities

We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Anophthalmos; Branchial Region; Brazil; Central Nervous System; Cleft Lip; Consanguinity; Dwarfism; Encephalocele; Female; Humans; Infant, Newborn; Intellectual Disability; Magnetic Resonance Imaging; Male; Nose; Phenotype; Syndrome

Topics: Child, Preschool; Craniofacial Abnormalities; Developmental Disabilities; Dwarfism; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Muscle Hypotonia; Nose; Paraplegia; Syndrome

A single maxillary central incisor in the midline is a rare developmental anomaly. The appearance of a single incisor in place of two teeth may occur as an isolated dental finding that can be related to fusion of two neighboring teeth or to agenesis of a tooth germ. However, the condition has also been reported to occur in association with autosomal dominant holoprosencephaly, growth retardation, and midline developmental defects. This article reports on other systemic defects that can be found in association with a single maxillary central incisor.

Topics: Anodontia; Child; Cryptorchidism; Disease; Dwarfism; Human Growth Hormone; Humans; Incisor; Intellectual Disability; Male; Maxilla; Nasal Septum; Nose

A 16-year-old girl with bilateral congenital posterior keratoconus of the localized type had corneal transplantation performed on one eye. Around the scarred central corneal cone there was a ring of Descemet's membrane with large knob-like excrescences. A small anterior subcapsular cataract was also present in this eye. The pattern of corneal scarring, as seen by electron microscopy, suggested an iridocorneal or iridocorneolenticular adhesion present at the 8- to 20-mm embryonic stage. Associated systemic defects, which could be dated to the same period, were median facial clefting and severe genitourinary abnormalities. Several external features, such as short stature, abnormal gait, broad nose, and upward displacement of the lateral canthi, were similar to those in the Haney-Falls syndrome of familial posterior keratoconus. No appreciable chromosomal abnormalities were found.

Topics: Abnormalities, Multiple; Adolescent; Cornea; Dwarfism; Female; Humans; Keratoconus; Limb Deformities, Congenital; Nose

Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features common to them include moderate mental retardation, postnatal dwarfism, susceptibility to infection in infancy, and peculiar craniofacial dysmorphia characterized by long palpebral fissures, high-arched and abnormal eyebrows, heavy and long eyelashes, large ears, short nasal septum and/or depressed nasal tip, and cleft palate. Other anomalies are stubby fingers, deformed vertebra and other bone and joint anomalies, and abnormal dermatoglyphics. The absence of familial occurrence and of consanguinity suggests some environmental causation, but the possibility of an autosomal dominant or X-linked mode of inheritance remains. Based upon our five patients and other five of Niikawa et al, we propose this syndrome as a new disease entity.

Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Child; Child, Preschool; Dwarfism; Ear, External; Eyelids; Face; Female; Humans; Infant; Intellectual Disability; Male; Nose; Syndrome

Topics: Abnormalities, Drug-Induced; Adolescent; Dwarfism; Epilepsy; Eye Abnormalities; Female; Fingers; Humans; Hydantoins; Nose; Pregnancy; Pregnancy Complications; Skull

The tricho-rhino-phalangeal syndrome is a rare anomaly characterized by typical cranio-facial dysmorphic signs and anomalies of hair and phalanges. Frequently associated are Perthes-like hip changes, low birth weight and short stature. Autosomal-dominant inheritance is prevalent.

Topics: Abnormalities, Multiple; Adult; Aged; Birth Weight; Child; Dwarfism; Female; Fingers; Hair; Humans; Male; Nose; Syndrome

Dental and craniofacial features of 17 children and young adults suffering from the recently discovered mulibrey nanism syndrome are described and discussed. The present data do not allow any definite craniofacial typification of the syndrome. However, several findings suggest that we may be dealing with persistence of infantile structural relationships in the craniofacial area.

Topics: Adolescent; Adult; Age Determination by Teeth; Cephalometry; Child; Child, Preschool; Dental Occlusion; Dwarfism; Face; Female; Frontal Bone; Humans; Infant; Male; Nose; Sella Turcica; Skull; Tooth

Topics: Deafness; Dwarfism; Hair; Humans; Infant; Infant, Newborn; Intellectual Disability; Malabsorption Syndromes; Male; Nose; Phenotype; Skin Abnormalities; Syndrome; Tooth Abnormalities

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

Topics: Achondroplasia; Bone and Bones; Cartilage Diseases; Cleft Palate; Diagnosis, Differential; Dwarfism; Eye Abnormalities; Female; Humans; Infant, Newborn; Karyotyping; Limb Deformities, Congenital; Nose; Ossification, Heterotopic; Radiography

Topics: Abnormalities, Multiple; Ankle Joint; Bone and Bones; Carpal Bones; Child; Cleft Palate; Dwarfism; Elbow Joint; Epiphyses; Facial Expression; Femur Head; Finger Joint; Hip Joint; Humans; Knee Joint; Male; Nose; Shoulder Joint; Wrist Joint

Topics: Abnormalities, Multiple; Adolescent; Clitoris; Congenital Hypothyroidism; Deafness; Disorders of Sex Development; Dwarfism; Ectodermal Dysplasia; Female; Humans; Intellectual Disability; Male; Nose; Pancreatic Diseases; Urethra; Uterus; Vagina

Topics: Abnormalities, Multiple; Birth Weight; Child; Child, Preschool; Congenital Hypothyroidism; Deafness; Dwarfism; Ectodermal Dysplasia; Female; Humans; Intellectual Disability; Malabsorption Syndromes; Nose; Nose Deformities, Acquired; Tooth Abnormalities

Topics: Body Weight; Child; Child, Preschool; Dwarfism; Female; Fingers; Humans; Intellectual Disability; Male; Mouth; Nails, Malformed; Nose; Toes

Topics: Abnormalities, Multiple; Child, Preschool; Clitoris; Diabetes Mellitus; Dwarfism; Endocrine System Diseases; Eye Abnormalities; Female; Germany, West; Heart Defects, Congenital; Humans; Hyperinsulinism; Hypertrichosis; Kidney; Lip; Nose; Ovary; Progeria