Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a similar facial appearance, prominent, cup-shaped ears, an abnormal dentition, early breast development, and low-normal intelligence. Because mother and daughter both had evident Kabuki syndrome, we conclude that KS in this family is inherited as a dominant trait. Further family history supports this finding. Microscopic examination of the hair of the proposita shows abnormalities consisting of trichorrhexis nodosa, twisting of the hairshafts, and irregularity of the diameter of the hair, as was described recently in a patient with KS. This could be another occasional finding in this syndrome, but further studies are required. The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome.
A neonate with lower-limb hypoplasia, cutaneous scars, bilateral chorioretinitis, and multiple brain abnormalities is presented. Intrauterine herpes simplex virus type 2 (HSV-2) infection was established on the basis of serological testing of the mother and viral cultures of the child's cutaneous lesions, obtained soon after birth. This is, to the best of our knowledge, the first case of a patient with in utero-acquired HSV-2 infection presenting with a limb hypoplasia. It illustrates that, in addition to congenital varicella-zoster syndrome, HSV-2 infection should also be considered in patients presenting with limb hypoplasia.
<b><i>Introduction:</i></b> Currently, INSURE (Intubation-Surfactant-Extubation) and LISA (Less Invasive Surfactant Administration) are two recommended techniques for surfactant delivery to newborns with respiratory distress syndrome. The aim of this study was to evaluate the feasibility, safety, tolerability of a new technique of surfactant administration in newborns without anesthesia or laryngoscopy: Fiberscope Assisted Surfactant Therapy (FAST). <b><i>Methods:</i></b> This monocentric, prospective, nonrandomized, pilot feasibility study was conducted from January to December 2021. Spontaneously breathing infants born ≥28 weeks gestational age with respiratory distress syndrome received surfactant by a 1.5 French catheter inserted in the trachea using a flexible endoscope without anesthesia, while maintaining a continuous positive expiratory pressure. The learning curve of this new technique by caregivers was studied during training sessions on high fidelity mannequins. <b><i>Results:</i></b> Eight infants born ≥28 weeks of gestation with a birth weight of 1,000 g–2,685 g were included in the study. FAST was successfully performed in each case without anesthesia, second dose of surfactant or mechanical ventilation. One hour after FAST, a decrease of FiO<sub>2</sub> and PCO<sub>2</sub> and an increase of arterial pressure and pH were recorded with medians of individual differences of −0.9, −4 mm Hg, 6.5 mm Hg, and 0.06, respectively. The learning curves of 13 physicians showed a rapid mastery of FAST from the third attempt onwards (mean duration of 113, 66, and 50 s for 1st, 2nd, and 3rd attempts, respectively, 29–37 s for further attempts). <b><i>Conclusion:</i></b> FAST may be considered as a possible new minimally invasive surfactant therapy technique for neonates ≥28 weeks with mild respiratory distress syndrome.
Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The detection of agenesis of olfactory bulbs could help establish a prenatal diagnosis of CD or ACD, although prevalence of this sign remains unknown.
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