Here we present clinical and microarray data from five singletons and two mother-child pairs who have heterozygous deletions significantly overlapping the region associated with NMLFS. [research.ed.ac.uk]

A recent report of a patient without this specific phenotype presented a 1.6?Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. [drci-chu-clermontferrand.fr]

Here we report on two NMFLS patients among which the first patient described by Teebi in 2000, and present newly described clinical findings including the common happy behaviour of the children. [research.rug.nl]

Rabideau’s present address is InVitae, San Francisco, CA Lisa G. [docksci.com]

PMID: 24801133 Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. Campbell CL, Collins RT 2nd, Zarate YA. Campbell CL, et al. [pubmed.ncbi.nlm.nih.gov]

• Sparse Eyebrows

  Both subjects show typical NMLFS facial features, including tight, glistening facial skin, laterally sparse eyebrows, telecanthus, blepharophimosis, bulbous nasal tip, micrognathia, and abnormal ears. [docksci.com]

• Small Hand

  On examination at 14 years of age, he was small for age (height 129 cm and weight 31 kg, both [docksci.com]

• Ankylosis

  At birth, he had severe micrognathia, ankylosis of the temporomandibular joint, blepharophimosis and external ear Ó 2015 Wiley Periodicals, Inc. [docksci.com]

• Suggestibility

  We read with great interest the articles by Allanson et al. [2012] suggesting that deletion of chromosome 8q22.1 is necessary, but not sufficient for development of NMLFS, supplemented by additional patients reported by Debost-Legrand et al. [2013] and [docksci.com]

• Distractibility

  A, B: Patient 1 at age 14 years prior to curvilinear distraction osteogenesis. C, D, E: Patient 1 at age 14 years post curvilinear distraction osteogenesis with improvement of his micrognathia. [docksci.com]

• Bulbous Nose

  Features Sex Tight/thick facial skin Blepharophimosis Telecanthus Reduced facial movement Arched/ sparse eyebrows Frontal upsweep Pinna anomaly Bulbous nose Long philtrum Micrognathia Cleft palate: Overt or submucous Cleft lip Wide-spaced nipples Cryptorchidism [docksci.com]

• Depressed Nasal Bridge

  Patient 1 shows the typical NMLFS facial features: tight appearing glistening facial skin, bilateral blepharophimosis, short downslanting palpebral fissures, sparse lateral eyebrows and eyelashes, low upswept anterior hairline, wide and depressed nasal [docksci.com]

• Global Developmental Delay

  We report on another case of an 8q21.3 deletion revealed by array comparative genome hybridization (aCGH) in a 4-year-old child with global developmental delay, autism, microcephaly, but without Nablus phenotype. [drci-chu-clermontferrand.fr]

• Language Delays

  PMID: 16691576 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Cusmano-Ozog K, Manning MA, Hoyme HE. Cusmano-Ozog K, et al. [pubmed.ncbi.nlm.nih.gov]

Three years later, with the development of the array CGH technology, Shieh et al., elucidated the etiology of NMFLS by showing that the two patients studied share a similar to 4 Mb microdeletion in the long arm of chromosome 8 (q21.3-q22.1). [research.rug.nl]