First boy’s presenting features When born, the first boy had a swollen body. He was also presenting sparse scalp hair, sparse eyebrow, webbed neck, hypertelorism, low-set dysplastic ear, generalized hypotonia. [3billion.io]

CFC is a phenotypically variable disorder; not all affected individuals will present with every finding. Further, some findings may be evident at birth while others may present later. [invitae.com]

With this report, it was aimed to draw attention to a different presentation of the long QT syndrome. Type Brief Report Copyright © The Author(s), 2020. [cambridge.org]

After 6 days, the baby presented with recurrent vomiting. Thus, she was readmitted to our NICU, where an abdominal US was soon carried out. [ijponline.biomedcentral.com]

Ulnar deviation of fingers, elbow contractures and cubitus valgus were also present, but they were less prevalent than in CS. Hip and knees contractures and feet anomalies (mostly characterized by pes valgus and planus) were also present. [ojrd.biomedcentral.com]

• Developmental Disorder

  Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007; 7:295–308. CrossRef PubMed CAS Google Scholar Sarkozy A, Conti E, Digilio MC et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. [link.springer.com]

  Article Google Scholar Schubbert S, Shannon K, Bollag G (2007) Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 7 (4): 295–308. [nature.com]

• Failure to Thrive

  Failure to thrive during infancy is typical, as are gastrointestinal complications such as reflux, vomiting, oral aversion, and constipation. [invitae.com]

  […] to thrive) Most children with CFC syndrome have a heart problem at birth. [kidshealth.org]

  Signs & Symptoms Most individuals are initially referred because of feeding difficulties (poor suck) and failure to thrive. Later, cognitive developmental delay and other clinical manifestations may be observed. [rarediseases.org]

  Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). [medlineplus.gov]

Standard Therapies Treatment The treatment of CFC syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

When necessary, surgical treatment should be performed as early as possible to allow minimally invasive or low impact surgical techniques. [ojrd.biomedcentral.com]

Concomitant disorders of facial morphology, occlusal conditions and dental disorders in the described patient require constant monitoring during the growth period as well as dental, orthodontic and surgical treatment. [dovepress.com]

Lupo Journal of Clinical Medicine (2021) Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes Emanuele Monda, Marta Rubino, Michele Lioncino, Francesco Di Fraia, Roberta Pacileo, Federica Verrillo [nature.com]

As Rodriguez-Marín observed,34 this more effective classification, supported by genomic assessment, can facilitate more targeted treatments. [revespcardiol.org]

Prevalence and etiology of sensorineural hearing loss in children with down syndrome: a Cross-Sectional Study. Int J Pediatr Otorhinolaryngol. 2019;116:168–172. doi:10.1016/j.ijporl.2018.10.048 22. Shankar SP, Young T, Burner E, et al. [dovepress.com]

Arrhythm Electrophysiol 2012; 5: 868–877.10.1161/CIRCEP.111.962019CrossRefGoogle Scholar Abe, Y, Aoki, Y, Kuriyama, S, et al.Prevalence and clinical features of Costello syndrome and cardio-faciocutaneous syndrome in Japan: findings from a nationwide epidemiological [cambridge.org]

In standard prospective epidemiologic studies, the analysis often excludes study end points that occur before disease diagnosis. [nature.com]

Lupo Journal of Clinical Medicine (2021) Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes Emanuele Monda, Marta Rubino, Michele Lioncino, Francesco Di Fraia, Roberta Pacileo, Federica Verrillo [nature.com]

In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. [rarediseases.org]

However, important methodological differences in study design prevent a direct comparison of these two studies. [nature.com]