ALLMedicine™ Child Syndrome Center

Mar 27th, 2023 - It is known that inborn errors of cholesterol synthesis give rise to human malformation/cognitive impairment syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabolism; however, this group of di...

Mar 8th, 2023 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Dec 13th, 2022 - Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase-like protein) gene. It primarily exhibits strictl...

Dec 9th, 2022 - Vulnerable child syndrome (VCS) is a condition in which a caregiver perceives a child as inherently frail and consequently employs health care services disproportionate to medical need. Historically, VCS has been described after a medical event or...

Jun 1st, 2022 - Congenital cytomegalovirus (cCMV) affects approximately 1 in every 200 US infants and can be associated with long-term neurodevelopmental sequelae, including sensorineural hearing loss, cerebral palsy, and intellectual disability. As cCMV is infre...

Mar 27th, 2023 - It is known that inborn errors of cholesterol synthesis give rise to human malformation/cognitive impairment syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabolism; however, this group of di...

Mar 8th, 2023 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Apr 13th, 2022 - The NICU is a stressful experience for parents. This stress naturally affects parents in different ways, ranging from feelings of depression, anxiety, or post traumatic stress disorder (PTSD). While these feelings are very common in parents of NIC...

Feb 6th, 2019 - An apparent life-threatening event (ALTE) refers to the sudden occurrence in an infant of symptoms such as breathing irregularities, stiffness, or limpness, that appear frightening to caretakers, prompting them to seek medical care. ALTE was first...

Apr 13th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...

Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. Dr.

May 2nd, 2020 - These are the UK coronavirus stories you need to know about today. Case Definition Published for Rare Child Syndrome UK paediatricians have published a working definition of an inflammatory syndrome affecting a very small number of children that m...

Oct 30th, 2019 - In the decade since "child abuse pediatrician" became a board-certified subspecialty, the field has seen its share of controversy. Justina Pelletier was taken from her parents and institutionalized in 2013 after a child abuse pediatrician at Bosto...

Jun 14th, 2019 - If the answer is “early follow-up,” then what is the question? It could be any one of the scores of challenges facing a primary care physician. Rachel Pearson – writing in an article on the vulnerable child syndrome in The New Yorker – claims that.