bleeding time 0003010 1%-4% of people have these symptoms Axillary freckling 0000997 Cubitus valgus Outward turned elbows 0002967 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Intellectual disability Mental deficiency Mental retardation Mental [rarediseases.info.nih.gov]

Abstract We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. [ncbi.nlm.nih.gov]

Results: A 13-year-old girl presented with short stature. [abstracts.eurospe.org]

Case Report A 13-year-old girl presented with short stature. [jcrpe.org]

A 15 months-old-male child born of a third degree consanguineous marriage presented with global developmental delay and recurrent respiratory infections. His antenatal and birth history were normal. [jpgmonline.com]

speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Specific learning disability 0001328 Webbed neck Neck webbing 0000465 30%-79% of people have these symptoms Abnormality of the lymphatic system 0100763 Abnormality of the thorax Abnormality of the chest 0000765 [rarediseases.info.nih.gov]

The child had right hemiparesis, pectus carinatum, right-sided cryptorchidism with poorly developed scrotum, and multiple pigmented macules along with multiple cafe-au-lait spots. [jpgmonline.com]

NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. [genome.jp]

Watson syndrome (WTSN) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. [genecards.org]

[…] fissures Downward slanting of the opening between the eyelids 0000494 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypertrophic cardiomyopathy Enlarged and thickened heart muscle 0001639 Low-set, posteriorly rotated ears 0000368 Multiple cafe-au-lait [rarediseases.info.nih.gov]

He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. [ncbi.nlm.nih.gov]

Physical examination revealed multiple café-au-lait spots, axillary freckling, relative macrocephaly suggesting NF1, and dysmorphic facial features, short and webbed neck, low posterior hairline, cubitus valgus, brachy and clinodactly, widely spaced nipples [abstracts.eurospe.org]

Her dermatological examination revealed bilateral axillary freckling, several hyperpigmented macules and patches between 1 and 5 cm in diameter which were consistent with café-au-lait spots. [medicaljournals.se]

The patient’s father also had features representing both NF1 and NS such as multiple café-au-lait spots, short stature, relative macrocephaly, and axillary freckling, suggesting NF syndrome, and findings such as prominent nasolabial folds, low-set ears [jcrpe.org]

freckling 0000997 Cubitus valgus Outward turned elbows 0002967 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 [rarediseases.info.nih.gov]

CASE REPORT A 20-year-old female patient was admitted to the hospital with hyperpigmented skin patches that had been present since birth and tumoral formations on her skin that had recently increased in number. [medicaljournals.se]

He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. [ncbi.nlm.nih.gov]

With 5 months, there was a global development disorder, brachycephaly, broad forehead with prominent metopic suture, infraorbital folds, pointed chin, low-set ears, short neck, excess skin on the neck and   6 café-au-lait spots with a diameter   0.5 cm [thieme-connect.com]

neck * Webbed neck * Shield chest * Sunken chest * Pectus carinatum * Cubitus valgus * Spine abnormalities * Pulmonary valve stenosis * Heart abnormalities * Left ventricular hypertrophy * Septal defects * Patent ductus arteriosus * Branch stenosis of [checkorphan.org]

neck Decreased length of neck 0000470 Superior pectus carinatum 0000917 Showing of 44 Last updated: 3/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

nasal root, dysmorphic facial features, short neck, and cubitus valgus suggesting NS. [jcrpe.org]

nasal root [ more ] 0005280 Global developmental delay 0001263 Inguinal freckling Freckles in groin region 0030052 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Muscle weakness Muscular weakness [rarediseases.info.nih.gov]

He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. [ncbi.nlm.nih.gov]

This exciting new, full-color reference provides you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children with cancer. [books.google.com]