P0000847

Caso comunicado por XWikiGuest en 2014-09-10·Última modificación en 2019-02-07

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Información del paciente

Identificador: --1324567

Nombre del paciente: Testy, Harry7


Status vital: Vivo

Fecha de nacimiento: 2015-01-01

Sexo: Hombre

Antecedentes familiares y pedigrí

Etnia paterna:

  1. Caucasian

Etnia materna:

  1. Japanese
  2. Han Chinese
NO

Historia prenatal y perinatal

Tiempo de embarazo hasta el parto (semanas) 37

Reproducción asistida:

NO
NO
NO
NO

Historia del embarazo

Hiperemesis gravídica (vómito excesivo)
Maternal teratogenic exposure
Toxemia of pregnancy
Intrapartum fever

Desarrollo prenatal

Decreased fetal movement
NO Moderate intrauterine growth retardation

Parto

Parto anormal (no-NSVD)
Induced vaginal delivery
Breech presentation
Caesarian section
Forceps delivery
Ventouse delivery
Delivery by Odon device
Spontaneous abortion
Premature birth

Parámetros de crecimiento neonatal

Pequeño para la edad gestacional (<-2DE)
Grande para la edad gestacional (>+2DE)
Longitud corta al nacimiento (<-2DE)
Longitud grande al nacimiento (>+2DE)
Microcefalia congénita (<-3DE)
Macrocephaly

Complicaciones perinatales

NO Prolonged neonatal jaundice
Poor suck
Neonatal hypoglycemia
Neonatal sepsis

Musculature

Macroglossia
Abnormality of muscle physiology

Historia clínica

Historia médica y del desarrollo:

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Síntomas clínicos y hallazgos físicos

Parámetros de crecimiento

NO Hemihypertrophy
Small for gestational age
Failure to thrive in infancy
Overgrowth
Eunuchoid habitus
Severe intrauterine growth retardation
Congenital microcephaly
Decreased body mass index
NO Postnatal microcephaly
NO Asymmetric short stature

Craneofacial

NO Craniosynostosis
Cleft upper lip
Cleft palate
Abnormal facial shape
Median cleft lip
Submucous cleft hard palate
Bifid uvula
Small face
Broad face
Bird-like facies
Depressed nasal ridge
Delayed closure of the anterior fontanelle
Sagittal craniosynostosis
Abnormality of the hairline
NO Bifid nasal tip
NO Telecanthus
NO Optic nerve coloboma
NO Lower eyelid coloboma
NO Median cleft lip and palate

Defectos del ojo

Visual impairment
Abnormal cornea morphology
Coloboma
Abnormal anterior chamber morphology
Cataract
Abnormal retinal morphology
Abnormality of the optic nerve
Microphthalmia
Nystagmus
Hypotelorism
Hypertelorism
Abnormality of the eye
Visual loss
Decreased lacrimation
Optic atrophy
Abnormally large globe
Congenital blindness
Aplasia/Hypoplasia of the optic nerve
True anophthalmia
Abnormal corneal endothelium morphology
Abnormality of corneal stroma
Abnormality of the optic disc
Increased cup-to-disc ratio
Abnormality of corneal shape
Corneal erosion
NO Abnormal migration of corneal endothelium
NO Reduced number of corneal endothelial cells
NO Abnormality of optic chiasm morphology

Defectos de la oreja

NO Neurosensorial
NO Conductiva
Preauricular pit
Preauricular skin tag
Abnormality of the outer ear
Abnormality of the inner ear
Postlingual sensorineural hearing impairment
Mild conductive hearing impairment
Infantile sensorineural hearing impairment
Asymmetry of the ears

Cutánea

Hypopigmentation of the skin
Capillary hemangioma
Vascular skin abnormality
Hypopigmented skin patches
Abnormality of the hair
Alopecia
Generalized hyperpigmentation
Generalized bronze hyperpigmentation
Abnormal blistering of the skin
Horizontal eyebrow
Papule

Cardiovascular

NO Atrial septal defect
Ventricular septal defect
NO Complete atrioventricular canal defect
Coarctation of aorta
Tetralogy of Fallot
Cardiomyopathy
Arrhythmia
Hypertension
Telangiectasia
Angiokeratoma
Abnormal heart valve morphology
Patent foramen ovale
Pulmonary artery atresia
Pulmonary capillary hemangiomatosis
Ebstein anomaly of the tricuspid valve
Primum atrial septal defect
Erythema
Criss-cross atrioventricular valves with superior-inferior ventricles
Noncompaction cardiomyopathy
NO Abnormality of the cardiovascular system
NO Sinus venosus atrial septal defect
NO Inlet ventricular septal defect
NO Perimembranous ventricular septal defect
NO Heart block

Respiratorio

Congenital diaphragmatic hernia
Abnormal lung morphology
11 pairs of ribs
Recurrent pneumonia
Small cell lung carcinoma

Músculo-esquelético

Skeletal dysplasia
Increased susceptibility to fractures
Lower limb undergrowth
Upper limb undergrowth
Dedo
Dedo del pie
Dedo
Dedo del pie
NO Preaxial
Postaxial
Manos
Pies
Scoliosis
Abnormality of the vertebral column
Flexion contracture
Talipes equinovarus
Abnormality of the hand
NO Abnormality of finger
NO Muscular hypotonia
NO Kyphosis
NO Dislocated radial head
NO Metaphyseal chondrodysplasia
NO Short 5th finger
NO Long palm

Gastrointestinal

NO Esophageal atresia
Tracheoesophageal fistula
NO Gastroschisis
NO Omphalocele
NO Aganglionic megacolon
Cholestasis
Elevated hepatic transaminase
Exocrine pancreatic insufficiency
Diabetes mellitus
Proximal esophageal atresia
Short-segment aganglionic megacolon
Long-segment aganglionic megacolon
Total colonic aganglionosis

Génitourinario

Renal cyst
Horseshoe kidney
Abnormality of the ureter
Abnormality of the urethra
Ambiguous genitalia
Hypospadias
Cryptorchidism
Membranoproliferative glomerulonephritis
Renal cortical microcysts
NO Membranous nephropathy

Conducta, cognición y desarrollo

Global developmental delay
Delayed fine motor development
Delayed gross motor development
Delayed speech and language development
Specific learning disability
Leve
Moderada
Severa
Attention deficit hyperactivity disorder
Autism
Behavioral abnormality
Cognitive impairment

Neurológica

Generalized hypotonia
Seizures
Ataxia
Dystonia
Chorea
NO Spasticity
Spinal dysraphism
Morphological abnormality of the central nervous system
Intellectual disability
Gait ataxia
EEG abnormality
Hypsarrhythmia
Neuroblastoma
Syringomyelia
Cranial nerve paralysis
Cranial nerve VI palsy
Aplasia/Hypoplasia of the corpus callosum
Childhood onset
Localized
Bilateral
Oppositional defiant disorder
Epileptic spasms
Childhood onset
Interictal epileptiform activity
Severe global developmental delay
NO Abnormality of movement

Blood And Blood-forming Tissues

Anemia

Endocrine System

Type II diabetes mellitus
Abnormality of the anterior pituitary

Neoplasm

Breast carcinoma

Immune System

Severe combined immunodeficiency
Hepatitis
Allergy

Digestive System

Annular pancreas
Elevated serum transaminases during infections
NO Abnormal liver function tests during pregnancy

Metabolism/homeostasis

Hyperinsulinemia
Hypercalcemia
Abnormality of cholesterol metabolism
NO Fever

Genes sugeridos

Información del genotipo

Lista de genes

 GenEstadoEstrategiaComentarios
1

DDX3P2

Testados como negativos
2

DACT1

Testados como negativos
3

FGF1

Testados como negativos
4

TMEFF2

Candidato
5

SRCAP

Candidato


Diagnóstico

Diagnóstico clínico (ORDO)

217569 Hypertrophic cardiomyopathy

263413 Angiosarcoma

Diagnóstico definitivo (OMIM)

%125520 CAYLER CARDIOFACIAL SYNDROME

#261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

#613978 HEMOGLOBIN H DISEASE

Caso resuelto

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Creado por XWikiGuest el 2014-09-10

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