KEY FACTS Terminology McCune-Albright syndrome (MAS) Subtype of polyostotic fibrous dysplasia (FD) Classic triad : Polyostotic FD, endocrine dysfunction with precocious puberty, and cutaneous hyperpigmentation You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited…
KEY FACTS Terminology X-linked mixed hearing loss ; conductive hearing loss (CHL) with stapes fixation (DFN3) Mixed deafness with perilymph gusher Profound sensorineural hearing loss (SNHL) ± CHL + bilateral unique inner ear anomaly You’re Reading a Preview Become a…
KEY FACTS Terminology Pierre Robin sequence (PRS) PRS triad: Micrognathia, glossoptosis, cleft palate You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here
KEY FACTS Terminology Treacher Collins syndrome (TCS) Nager syndrome (NS): TCS + limb anomalies Craniofacial malformation: Down-slanting palpebral fissures, micrognathia, zygomatic and malar hypoplasia, microtia/anotia, ± limb defects You’re Reading a Preview Become a Clinical Tree membership for Full access…
KEY FACTS Terminology Oculoauriculovertebral spectrum, Goldenhar syndrome, facioauriculovertebral sequence Defect of 1st & 2nd pharyngeal arch derivatives ± neural crest cells You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If…
KEY FACTS Terminology CHARGE : C oloboma, h eart anomaly, a tresia choanae, r etardation (mental & somatic development), g enital hypoplasia, e ar abnormalities Major signs: Coloboma, choanal atresia, semicircular canal (SCC) hypoplasia/aplasia, cranial nerve (CN) involvement Minor signs:…
KEY FACTS Terminology Branchiootorenal syndrome (BOR) Autosomal dominant syndrome Deafness and ear anomalies Branchial anomalies/preauricular pits Renal abnormalities You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a…
KEY FACTS Terminology Abbreviation: Basal cell nevus syndrome ( BCNS ) Synonyms: Gorlin syndrome, Gorlin-Goltz syndrome Autosomal dominant disorder: Multiple keratocystic odontogenic tumors (KOTs), basal cell carcinoma, medulloblastoma , intracranial dural Ca⁺⁺ , bifid ribs You’re Reading a Preview Become…
KEY FACTS Terminology Neurofibromatosis type 2 ( NF2 ): Inherited syndrome with multiple schwannomas , meningiomas, & ependymomas You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a…
KEY FACTS You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here