Nevo syndrome

Abstract

We report on a patient with Nevo syndrome manifesting intrauterine and postpartum overgrowth, accelerated osseous maturation, dolichocephaly, highly arched palate, large, low-set ears, cryptorchidism, delayed neuropsychological development, hypotonia, adema, contractures of the hands and feet, a single a transverse palmar crease, and tapering digits. After meningococcal sepsis at age 6 months, he remained decerebrate. Thereafter, overgrowth and especially weight gain were extremely accelerated until his death at age 18 months, at which time his height was 103 cm and his weight was 23 kg. In addition to low plasma concentrations of growth hormone and insulin-like growth factor, severe insulin resistance was observed. It is presumed that a selective defect in insulin-stimulated glucose uptake, with preservation of anabolic effect, was one of the causes of his "overgrowth without growth hormone," at least in the last 12 months of life after severe brain damage. Am.

Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis

“…Nevo Syndrome, an allelic condition of the kyphoscoliotic type Ehlers–Danlos syndrome, caused by pathogenic mutations of PLOD1 [Yeowell and Steinmann, ], might present with dural ectasia, joint and skin laxity, kyphoscoliosis, and hypotonia at birth. However, patients with Nevo syndrome typically show flexion contractures of edematous hands and feet, wrist drop and “spindle shaped” fingers [Dumić et al, ]. Our patient had normal hand shape and screening of PLOD1 revealed no mutation.…”

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

“…Al‐Gazali et al [1997] subsequently described two further boys from unrelated Arab families with similar features (patients 4 and 5 of this report). A further patient with Nevo syndrome reported by Dumic et al [1998] manifested intrauterine and postpartum overgrowth, accelerated osseous maturation, dolichocephaly, a high‐arched palate, large and low‐set ears, cryptorchidism, delayed neuropsychological development, hypotonia, edema and contractures of the hands and feet, a single transverse palmar crease, and tapering digits.…”

“…The Nevo syndrome (MIM 601451) is a rare, autosomal recessive disorder, first described by Nevo et al [1974], who reported an inbred Arab family in which two sibs and their cousin had increased growth, kyphosis, a prominent forehead, volar edema, spindle‐shaped fingers, wristdrop, talipes, and generalized hypotonia [Nevo et al, 1974]. Since this first description, only a few further cases have been reported [Hilderink and Brunner, 1995; Al‐Gazali et al, 1997; Dumic et al, 1998].…”

“…We report here that six patients from inbred families from the United Arab Emirates (UAE), and one Dutch patient, three of whom were previously reported as having Nevo syndrome [Hilderink and Brunner, 1995; Al‐Gazali et al, 1997], do, in fact, have EDS VIA. Unfortunately, the original patients described by Nevo et al [1974] and the single patient reported by Dumic et al [1998] were not available.…”

Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes

“…Several other overgrowth syndromes associated with mental deficiency are summarized in Table IV. These include Costello syndrome [Van Eeghen et al, 1999], macrocephaly‐cutis marmorata syndrome [Clayton‐Smith et al, 1997; Moore et al, 1997; Robertson et al, 2000], Nevo syndrome [Al‐Gazali et al, 1997; Dumić et al, 1998], Marshall‐Smith syndrome [Cohen, 1989; Cohen et al, 2002], Carpenter syndrome [Leonard, 1988; Cohen et al, 2002], nonsyndromal overgrowth [Neri et al, 1998b], Siena‐type overgrowth [Mangano et al, 1989], macrocephaly‐megalocornea syndrome [Neuhauser et al, 1975; Frydman et al, 1990], Richieri‐Costa overgrowth syndrome [Richieri‐Costa et al, 1993], and macrosomia, obesity, macrocephaly, and ocular abnormalitites (MOMO) syndrome [Moretti‐Ferreira et al, 1993].…”