Division of Diabetes and Endocrinology, Department of Internal Medicine, Daini Osaka Police Hospital, Karasugatsuji, Ten-noji, Osaka, Japan.
Published: May 2020
AI Article Synopsis
Article Abstract
Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the gene () with the main features of holoprosencephaly and ectrodactyly. Patients with HS also present with endocrinological deficits, such as isolated hypogonadotropic hypogonadism and central diabetes insipidus. Although there are several studies on infancy/childhood history, there is no study of infant/childhood/adolescent/young adult HS natural history and endocrinological findings. Here, we report a male patient with HS associated with a novel de novo mutation (c. 1868A > C). The endocrinological profile was evaluated at ages 1 and 31 years. This long-term follow-up study highlights functional changes in the posterior pituitary gland and features of bone metabolism disorder. We also describe the anterior pituitary function. To our knowledge this is the first description of the natural history of an HS patient through birth to young adult age. Although the HS infants reported in the literature develop central diabetes insipidus, little is known about the serial changes in pituitary gland function during growth in HS patients. In this study we describe an adult patient with HS who showed improvement of hypernatremia during early adulthood. In addition, we emphasize the importance of prevention and treatment of osteoporosis in HS.
Holoprosencephaly (HPE) is a common forebrain developmental disorder that can cause various physical and cognitive issues, linked to both chromosomal problems and single-gene mutations.
This study presents a case where prenatal exome sequencing identified a genetic variant in the mother that contributed to neurological issues in two pregnancies.
The findings emphasize the importance of using exome sequencing for early prenatal diagnosis of genetic conditions, especially when problems with fetal midline structures are observed, highlighting the complexity of genetic variations in seemingly asymptomatic individuals.
A G2P0, 24-year-old woman presented at 17 weeks 3 days gestation for a fetal anatomy scan. Ultrasound identified bilateral upper and lower extremity ectrodactyly, semilobar holoprosencephaly, midface hypoplasia, and cleft lip and palate. Amniocentesis for a chromosome microarray demonstrated no significant copy number changes.
Unlabelled: Hartsfield syndrome is a rare and unique clinical combination of ectrodactyly and holoprosencephaly (HPE) with or without cleft lip and palate, as well as various additional characteristics. Although several genes responsible for HPE and ectrodactyly have been identified, the genetic origin of Hartsfield syndrome remains unknown, as there are few reports in the literature. The objective of this case report is to present dentofacial abnormalities in an 11-year-old boy with Hartsfield syndrome, who presented mental retardation, hearing loss, bilateral hand and foot ectrodactyly, HPE, and solitary median maxillary central incisor (SMMCI) besides 12 dental ageneses.
Hartsfield syndrome is a rare condition characterised by the co-occurrence of ectrodactyly and holoprosencephaly spectrum disorders; cleft lip and palate is a common associated feature. This is due to either monoallelic, or less commonly, biallelic variants in FGFR1 with a loss of function or dominant negative effect. To date 37 individuals have been reported, including two instances of germline mosaicism.
